← Back to variant description
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: 2-42644172-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=42644172&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MTA3",
"hgnc_id": 23784,
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Leu143Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001330442.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4399999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 594,
"aa_ref": "L",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5446,
"cdna_start": 541,
"cds_end": null,
"cds_length": 1785,
"cds_start": 427,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001330442.2",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Leu143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000405094.2",
"protein_coding": true,
"protein_id": "NP_001317371.1",
"strand": true,
"transcript": "NM_001330442.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 594,
"aa_ref": "L",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5446,
"cdna_start": 541,
"cds_end": null,
"cds_length": 1785,
"cds_start": 427,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000405094.2",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Leu143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001330442.2",
"protein_coding": true,
"protein_id": "ENSP00000385823.1",
"strand": true,
"transcript": "ENST00000405094.2",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 537,
"aa_ref": "L",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5484,
"cdna_start": 581,
"cds_end": null,
"cds_length": 1614,
"cds_start": 259,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000406652.5",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Leu87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384249.1",
"strand": true,
"transcript": "ENST00000406652.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 515,
"aa_ref": "L",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1548,
"cds_start": 427,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000407270.7",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Leu143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385045.3",
"strand": true,
"transcript": "ENST00000407270.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 593,
"aa_ref": "L",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5443,
"cdna_start": 541,
"cds_end": null,
"cds_length": 1782,
"cds_start": 427,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001330443.2",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Leu143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317372.1",
"strand": true,
"transcript": "NM_001330443.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 592,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 431,
"cds_end": null,
"cds_length": 1779,
"cds_start": 424,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956432.1",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Leu142Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626491.1",
"strand": true,
"transcript": "ENST00000956432.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 539,
"aa_ref": "L",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 369,
"cds_end": null,
"cds_length": 1620,
"cds_start": 265,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925935.1",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.265C>T",
"hgvs_p": "p.Leu89Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595994.1",
"strand": true,
"transcript": "ENST00000925935.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 537,
"aa_ref": "L",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6290,
"cdna_start": 1388,
"cds_end": null,
"cds_length": 1614,
"cds_start": 259,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282755.2",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Leu87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269684.1",
"strand": true,
"transcript": "NM_001282755.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 537,
"aa_ref": "L",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5483,
"cdna_start": 581,
"cds_end": null,
"cds_length": 1614,
"cds_start": 259,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001282756.2",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Leu87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269685.1",
"strand": true,
"transcript": "NM_001282756.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 537,
"aa_ref": "L",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5832,
"cdna_start": 929,
"cds_end": null,
"cds_length": 1614,
"cds_start": 259,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000405592.5",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Leu87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383973.1",
"strand": true,
"transcript": "ENST00000405592.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 531,
"aa_ref": "L",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5173,
"cdna_start": 457,
"cds_end": null,
"cds_length": 1596,
"cds_start": 427,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000860174.1",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Leu143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530233.1",
"strand": true,
"transcript": "ENST00000860174.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 530,
"aa_ref": "L",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5254,
"cdna_start": 541,
"cds_end": null,
"cds_length": 1593,
"cds_start": 427,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001330444.2",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Leu143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317373.1",
"strand": true,
"transcript": "NM_001330444.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 530,
"aa_ref": "L",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 562,
"cds_end": null,
"cds_length": 1593,
"cds_start": 427,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956431.1",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Leu143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626490.1",
"strand": true,
"transcript": "ENST00000956431.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 515,
"aa_ref": "L",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 541,
"cds_end": null,
"cds_length": 1548,
"cds_start": 427,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_020744.4",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Leu143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065795.1",
"strand": true,
"transcript": "NM_020744.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 514,
"aa_ref": "L",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": 498,
"cds_end": null,
"cds_length": 1545,
"cds_start": 427,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000406911.5",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Leu143Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385241.1",
"strand": true,
"transcript": "ENST00000406911.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000409019.5",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "n.427C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000386763.1",
"strand": true,
"transcript": "ENST00000409019.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 758,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000430763.5",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "n.*275C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000401815.1",
"strand": true,
"transcript": "ENST00000430763.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1702,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000454356.5",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "n.427C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000391455.1",
"strand": true,
"transcript": "ENST00000454356.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 553,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000461256.5",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "n.364C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000461256.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000484780.5",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "n.388C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000484780.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 703,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000491314.1",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "n.630C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000491314.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 413,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000493983.1",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "n.335C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000493983.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 758,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000430763.5",
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"hgvs_c": "n.*275C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000401815.1",
"strand": true,
"transcript": "ENST00000430763.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs368239450",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000027382368,
"gene_hgnc_id": 23784,
"gene_symbol": "MTA3",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.00000273824,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.664,
"pos": 42644172,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001330442.2"
}
]
}