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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: 14-77444311-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77444311&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "VIPAS39",
"hgnc_id": 20347,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_022067.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.62,
"chr": "14",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " and cholestasis 2, renal dysfunction,Arthrogryposis",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6200000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1482,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001193315.2",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000557658.6",
"protein_coding": true,
"protein_id": "NP_001180244.1",
"strand": false,
"transcript": "NM_001193315.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1482,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000557658.6",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001193315.2",
"protein_coding": true,
"protein_id": "ENSP00000452191.1",
"strand": false,
"transcript": "ENST00000557658.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2761,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1482,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000343765.6",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339122.2",
"strand": false,
"transcript": "ENST00000343765.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 519,
"aa_ref": "Q",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1560,
"cds_start": 613,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000556412.4",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Gln205*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451857.1",
"strand": false,
"transcript": "ENST00000556412.4",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 501,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 913,
"cds_end": null,
"cds_length": 1506,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000897625.1",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567684.1",
"strand": false,
"transcript": "ENST00000897625.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 501,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2515,
"cdna_start": 612,
"cds_end": null,
"cds_length": 1506,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000897630.1",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567689.1",
"strand": false,
"transcript": "ENST00000897630.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1482,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001193314.2",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180243.1",
"strand": false,
"transcript": "NM_001193314.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1482,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001193317.2",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180246.1",
"strand": false,
"transcript": "NM_001193317.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1482,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001400326.1",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387255.1",
"strand": false,
"transcript": "NM_001400326.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 913,
"cds_end": null,
"cds_length": 1482,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_022067.4",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_071350.2",
"strand": false,
"transcript": "NM_022067.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1482,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000553888.5",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452181.1",
"strand": false,
"transcript": "ENST00000553888.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1482,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000897629.1",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567688.1",
"strand": false,
"transcript": "ENST00000897629.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1482,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000951346.1",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621405.1",
"strand": false,
"transcript": "ENST00000951346.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1482,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000951347.1",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621406.1",
"strand": false,
"transcript": "ENST00000951347.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": 648,
"cds_end": null,
"cds_length": 1482,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000951350.1",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621409.1",
"strand": false,
"transcript": "ENST00000951350.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 464,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1395,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001400330.1",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387259.1",
"strand": false,
"transcript": "NM_001400330.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 464,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1395,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001400331.1",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387260.1",
"strand": false,
"transcript": "NM_001400331.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 464,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2714,
"cdna_start": 913,
"cds_end": null,
"cds_length": 1395,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001400332.1",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387261.1",
"strand": false,
"transcript": "NM_001400332.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 464,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2667,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1395,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000897631.1",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567690.1",
"strand": false,
"transcript": "ENST00000897631.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 458,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2425,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1377,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001400335.1",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387264.1",
"strand": false,
"transcript": "NM_001400335.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 458,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 639,
"cds_end": null,
"cds_length": 1377,
"cds_start": 535,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000897626.1",
"gene_hgnc_id": 20347,
"gene_symbol": "VIPAS39",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Gln179*",
"intron_rank": null,
"intron_rank_end": null,
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}
]
}