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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: 7-50476625-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=50476625&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP2",
"PP3",
"PP5_Very_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "DDC",
"hgnc_id": 2719,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_000790.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PM5,PP2,PP3,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 63,
"alphamissense_prediction": null,
"alphamissense_score": 0.6531,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.09,
"chr": "7",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Deficiency of aromatic-L-amino-acid decarboxylase,See cases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9 LP:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7524447441101074,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001082971.2",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000444124.7",
"protein_coding": true,
"protein_id": "NP_001076440.2",
"strand": false,
"transcript": "NM_001082971.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000444124.7",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001082971.2",
"protein_coding": true,
"protein_id": "ENSP00000403644.2",
"strand": false,
"transcript": "ENST00000444124.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000357936.9",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350616.5",
"strand": false,
"transcript": "ENST00000357936.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 528,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1184,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000897740.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Arg395Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567799.1",
"strand": false,
"transcript": "ENST00000897740.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1163,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000897739.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Arg388Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567798.1",
"strand": false,
"transcript": "ENST00000897739.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1163,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000897756.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Arg388Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567815.1",
"strand": false,
"transcript": "ENST00000897756.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1049,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000897747.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567806.1",
"strand": false,
"transcript": "ENST00000897747.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1954,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1049,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000897752.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567811.1",
"strand": false,
"transcript": "ENST00000897752.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_000790.4",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000781.2",
"strand": false,
"transcript": "NM_000790.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000897741.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567800.1",
"strand": false,
"transcript": "ENST00000897741.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 1154,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000897750.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567809.1",
"strand": false,
"transcript": "ENST00000897750.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2941,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000897751.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567810.1",
"strand": false,
"transcript": "ENST00000897751.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000897753.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567812.1",
"strand": false,
"transcript": "ENST00000897753.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000897758.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567817.1",
"strand": false,
"transcript": "ENST00000897758.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000962221.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632280.1",
"strand": false,
"transcript": "ENST00000962221.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000897746.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567805.1",
"strand": false,
"transcript": "ENST00000897746.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 447,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1910,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 1344,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000897749.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567808.1",
"strand": false,
"transcript": "ENST00000897749.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 446,
"aa_ref": "R",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1341,
"cds_start": 938,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000897743.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567802.1",
"strand": false,
"transcript": "ENST00000897743.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 446,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1910,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1341,
"cds_start": 1040,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000897748.1",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567807.1",
"strand": false,
"transcript": "ENST00000897748.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 442,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1329,
"cds_start": 926,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001242886.2",
"gene_hgnc_id": 2719,
"gene_symbol": "DDC",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229815.2",
"strand": false,
"transcript": "NM_001242886.2",
"transcript_support_level": null
},
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],
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"effect": "missense_variant,splice_region_variant",
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]
}