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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: 7-2250887-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2250887&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NUDT1",
"hgnc_id": 8048,
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Asp142Asp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_198949.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 291457,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5600000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 658,
"cdna_start": 400,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_002452.4",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356714.6",
"protein_coding": true,
"protein_id": "NP_002443.3",
"strand": true,
"transcript": "NM_002452.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 658,
"cdna_start": 400,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000356714.6",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002452.4",
"protein_coding": true,
"protein_id": "ENSP00000349148.1",
"strand": true,
"transcript": "ENST00000356714.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 179,
"aa_ref": "D",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 771,
"cdna_start": 513,
"cds_end": null,
"cds_length": 540,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000343985.8",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Asp142Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339503.4",
"strand": true,
"transcript": "ENST00000343985.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 179,
"aa_ref": "D",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 783,
"cdna_start": 525,
"cds_end": null,
"cds_length": 540,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000397048.5",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Asp142Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380241.1",
"strand": true,
"transcript": "ENST00000397048.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 698,
"cdna_start": 440,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000339737.6",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343439.2",
"strand": true,
"transcript": "ENST00000339737.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 712,
"cdna_start": 454,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000397046.5",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380239.1",
"strand": true,
"transcript": "ENST00000397046.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 714,
"cdna_start": 456,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000397049.2",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380242.2",
"strand": true,
"transcript": "ENST00000397049.2",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 179,
"aa_ref": "D",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 782,
"cdna_start": 524,
"cds_end": null,
"cds_length": 540,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_198949.2",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Asp142Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_945187.1",
"strand": true,
"transcript": "NM_198949.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 179,
"aa_ref": "D",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 818,
"cdna_start": 560,
"cds_end": null,
"cds_length": 540,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_198952.2",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Asp142Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_945190.1",
"strand": true,
"transcript": "NM_198952.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 179,
"aa_ref": "D",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 771,
"cdna_start": 513,
"cds_end": null,
"cds_length": 540,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_198954.1",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Asp142Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_945192.1",
"strand": true,
"transcript": "NM_198954.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 742,
"cdna_start": 484,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001367553.1",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354482.1",
"strand": true,
"transcript": "NM_001367553.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 709,
"cdna_start": 451,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_198948.2",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_945186.1",
"strand": true,
"transcript": "NM_198948.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 745,
"cdna_start": 487,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_198950.2",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_945188.1",
"strand": true,
"transcript": "NM_198950.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 698,
"cdna_start": 440,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_198953.1",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_945191.1",
"strand": true,
"transcript": "NM_198953.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1461,
"cdna_start": 524,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862416.1",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532475.1",
"strand": true,
"transcript": "ENST00000862416.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1381,
"cdna_start": 455,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862417.1",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532476.1",
"strand": true,
"transcript": "ENST00000862417.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 692,
"cdna_start": 416,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925089.1",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595148.1",
"strand": true,
"transcript": "ENST00000925089.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 738,
"cdna_start": 463,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925090.1",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595149.1",
"strand": true,
"transcript": "ENST00000925090.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 809,
"cdna_start": 532,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925091.1",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595150.1",
"strand": true,
"transcript": "ENST00000925091.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 679,
"cdna_start": 416,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925092.1",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595151.1",
"strand": true,
"transcript": "ENST00000925092.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 847,
"cdna_start": 589,
"cds_end": null,
"cds_length": 471,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925093.1",
"gene_hgnc_id": 8048,
"gene_symbol": "NUDT1",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595152.1",
"strand": true,
"transcript": "ENST00000925093.1",
"transcript_support_level": null
},
{
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