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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: 6-142771183-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=142771183&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": "HIVEP2",
"hgnc_id": 4921,
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"inheritance_mode": "AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_006734.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "6",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " autosomal dominant 43,Intellectual disability",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9697,
"cdna_start": 4274,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_006734.4",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367603.8",
"protein_coding": true,
"protein_id": "NP_006725.3",
"strand": false,
"transcript": "NM_006734.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9697,
"cdna_start": 4274,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000367603.8",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006734.4",
"protein_coding": true,
"protein_id": "ENSP00000356575.2",
"strand": false,
"transcript": "ENST00000367603.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9862,
"cdna_start": 4439,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438449.1",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425378.1",
"strand": false,
"transcript": "NM_001438449.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9936,
"cdna_start": 4513,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438450.1",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425379.1",
"strand": false,
"transcript": "NM_001438450.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9765,
"cdna_start": 4342,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438451.1",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425380.1",
"strand": false,
"transcript": "NM_001438451.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9755,
"cdna_start": 4332,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000012134.7",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000012134.2",
"strand": false,
"transcript": "ENST00000012134.7",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10032,
"cdna_start": 4618,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000367604.6",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356576.1",
"strand": false,
"transcript": "ENST00000367604.6",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8512,
"cdna_start": 4261,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000703918.1",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515552.1",
"strand": false,
"transcript": "ENST00000703918.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8963,
"cdna_start": 4390,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000859142.1",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529201.1",
"strand": false,
"transcript": "ENST00000859142.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9929,
"cdna_start": 4504,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000932991.1",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603050.1",
"strand": false,
"transcript": "ENST00000932991.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9576,
"cdna_start": 4161,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000932992.1",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603051.1",
"strand": false,
"transcript": "ENST00000932992.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10203,
"cdna_start": 5565,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932993.1",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603052.1",
"strand": false,
"transcript": "ENST00000932993.1",
"transcript_support_level": null
},
{
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"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17803,
"cdna_start": 12380,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932994.1",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603053.1",
"strand": false,
"transcript": "ENST00000932994.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8942,
"cdna_start": 4310,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000949342.1",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619401.1",
"strand": false,
"transcript": "ENST00000949342.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4971,
"cdna_start": 4294,
"cds_end": null,
"cds_length": 4233,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000474532.2",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515553.1",
"strand": false,
"transcript": "ENST00000474532.2",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9973,
"cdna_start": 4550,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024446417.2",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024302185.1",
"strand": false,
"transcript": "XM_024446417.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9995,
"cdna_start": 4572,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024446419.2",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024302187.1",
"strand": false,
"transcript": "XM_024446419.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_length": 2446,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 49490,
"cdna_start": 44067,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418707.1",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274663.1",
"strand": false,
"transcript": "XM_047418707.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19094,
"cdna_start": 13671,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418708.1",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274664.1",
"strand": false,
"transcript": "XM_047418708.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13747,
"cdna_start": 8324,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418709.1",
"gene_hgnc_id": 4921,
"gene_symbol": "HIVEP2",
"hgvs_c": "c.3556C>T",
"hgvs_p": "p.Gln1186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274665.1",
"strand": false,
"transcript": "XM_047418709.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2446,
"aa_ref": "Q",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13821,
"cdna_start": 8398,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3556,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 6,
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