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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: 1-1787370-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1787370&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "GNB1",
"hgnc_id": 4396,
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_002074.5",
"verdict": "Benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000302550",
"hgnc_id": null,
"hgvs_c": "n.78+4135C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000787789.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_score": -9,
"allele_count_reference_population": 40,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17299999296665192,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_002074.5",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378609.9",
"protein_coding": true,
"protein_id": "NP_002065.1",
"strand": false,
"transcript": "NM_002074.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000378609.9",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002074.5",
"protein_coding": true,
"protein_id": "ENSP00000367872.3",
"strand": false,
"transcript": "ENST00000378609.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 358,
"aa_ref": "A",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3224,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1077,
"cds_start": 1038,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000947520.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.1038G>A",
"hgvs_p": "p.Ala346Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617579.1",
"strand": false,
"transcript": "ENST00000947520.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 352,
"aa_ref": "A",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3195,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1059,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000947524.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.1020G>A",
"hgvs_p": "p.Ala340Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617583.1",
"strand": false,
"transcript": "ENST00000947524.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 352,
"aa_ref": "A",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 1059,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000947538.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.1020G>A",
"hgvs_p": "p.Ala340Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617597.1",
"strand": false,
"transcript": "ENST00000947538.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001282539.2",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269468.1",
"strand": false,
"transcript": "NM_001282539.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000610897.4",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481878.1",
"strand": false,
"transcript": "ENST00000610897.4",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3265,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000703692.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515427.1",
"strand": false,
"transcript": "ENST00000703692.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000703693.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515428.1",
"strand": false,
"transcript": "ENST00000703693.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3139,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000703694.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515429.1",
"strand": false,
"transcript": "ENST00000703694.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000703696.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515431.1",
"strand": false,
"transcript": "ENST00000703696.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3247,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000703697.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515432.1",
"strand": false,
"transcript": "ENST00000703697.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000703699.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515433.1",
"strand": false,
"transcript": "ENST00000703699.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2875,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000703700.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515434.1",
"strand": false,
"transcript": "ENST00000703700.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3214,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000703701.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515435.1",
"strand": false,
"transcript": "ENST00000703701.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000703702.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515436.1",
"strand": false,
"transcript": "ENST00000703702.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000703703.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515437.1",
"strand": false,
"transcript": "ENST00000703703.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3141,
"cdna_start": 1516,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000703704.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515438.1",
"strand": false,
"transcript": "ENST00000703704.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2579,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000703706.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515440.1",
"strand": false,
"transcript": "ENST00000703706.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2841,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 1023,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000703708.1",
"gene_hgnc_id": 4396,
"gene_symbol": "GNB1",
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ala328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515442.1",
"strand": false,
"transcript": "ENST00000703708.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 328,
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}