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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: 15-99674601-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=99674601&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"BP4_Moderate",
"BS2_Supporting"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MEF2A",
"hgnc_id": 6993,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -3,
"transcript": "NM_001400028.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2_Supporting",
"acmg_score": -3,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.1895,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19656217098236084,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 505,
"aa_ref": "T",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5580,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1518,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001319206.4",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Thr200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000557942.6",
"protein_coding": true,
"protein_id": "NP_001306135.1",
"strand": true,
"transcript": "NM_001319206.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 505,
"aa_ref": "T",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5580,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1518,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000557942.6",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Thr200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001319206.4",
"protein_coding": true,
"protein_id": "ENSP00000453095.1",
"strand": true,
"transcript": "ENST00000557942.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 499,
"aa_ref": "T",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5824,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1500,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000354410.9",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Thr202Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346389.5",
"strand": true,
"transcript": "ENST00000354410.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3418,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 1656,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000947006.1",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617065.1",
"strand": true,
"transcript": "ENST00000947006.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3408,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1656,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000947007.1",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617066.1",
"strand": true,
"transcript": "ENST00000947007.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 547,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3367,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1644,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000947010.1",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Thr242Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617069.1",
"strand": true,
"transcript": "ENST00000947010.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5694,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1632,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001400028.1",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Thr246Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001386957.1",
"strand": true,
"transcript": "NM_001400028.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 529,
"aa_ref": "T",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5554,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1590,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000946992.1",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Thr202Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617051.1",
"strand": true,
"transcript": "ENST00000946992.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 519,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3186,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1560,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000947011.1",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Thr214Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617070.1",
"strand": true,
"transcript": "ENST00000947011.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 519,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2722,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1560,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947023.1",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Thr214Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617082.1",
"strand": true,
"transcript": "ENST00000947023.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 511,
"aa_ref": "T",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5598,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1536,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001365201.3",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Thr206Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352130.1",
"strand": true,
"transcript": "NM_001365201.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 511,
"aa_ref": "T",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5516,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1536,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001365202.3",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Thr206Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352131.1",
"strand": true,
"transcript": "NM_001365202.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 511,
"aa_ref": "T",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5598,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1536,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000338042.11",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Thr206Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337202.8",
"strand": true,
"transcript": "ENST00000338042.11",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 511,
"aa_ref": "T",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3011,
"cdna_start": 851,
"cds_end": null,
"cds_length": 1536,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000690055.1",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Thr206Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509700.1",
"strand": true,
"transcript": "ENST00000690055.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 511,
"aa_ref": "T",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5598,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1536,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000705985.1",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Thr206Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516195.1",
"strand": true,
"transcript": "ENST00000705985.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 511,
"aa_ref": "T",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1536,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000889144.1",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Thr206Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559203.1",
"strand": true,
"transcript": "ENST00000889144.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 511,
"aa_ref": "T",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5474,
"cdna_start": 927,
"cds_end": null,
"cds_length": 1536,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000946979.1",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Thr206Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617038.1",
"strand": true,
"transcript": "ENST00000946979.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 507,
"aa_ref": "T",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5586,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1524,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001365203.3",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Thr202Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352132.1",
"strand": true,
"transcript": "NM_001365203.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 507,
"aa_ref": "T",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5504,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1524,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001365204.3",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Thr202Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352133.1",
"strand": true,
"transcript": "NM_001365204.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 507,
"aa_ref": "T",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5582,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1524,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001400029.1",
"gene_hgnc_id": 6993,
"gene_symbol": "MEF2A",
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Thr202Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001386958.1",
"strand": true,
"transcript": "NM_001400029.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 507,
"aa_ref": "T",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5539,
"cdna_start": 903,
"cds_end": null,
"cds_length": 1524,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001400030.1",
"gene_hgnc_id": 6993,
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