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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: 3-24122984-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=24122984&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "THRB",
"hgnc_id": 11799,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"inheritance_mode": "SD,AR,AD",
"pathogenic_score": 19,
"score": 19,
"transcript": "NM_000461.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 19,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.99,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.55,
"chr": "3",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " autosomal dominant, generalized,THRB-related disorder,Thyroid hormone resistance,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9884679317474365,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7576,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001354712.2",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000646209.2",
"protein_coding": true,
"protein_id": "NP_001341641.1",
"strand": false,
"transcript": "NM_001354712.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7576,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000646209.2",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001354712.2",
"protein_coding": true,
"protein_id": "ENSP00000496686.2",
"strand": false,
"transcript": "ENST00000646209.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6433,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000356447.9",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348827.4",
"strand": false,
"transcript": "ENST00000356447.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 476,
"aa_ref": "R",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1718,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000280696.9",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1331G>A",
"hgvs_p": "p.Arg444Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000280696.5",
"strand": false,
"transcript": "ENST00000280696.9",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7430,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000461.5",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000452.2",
"strand": false,
"transcript": "NM_000461.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7541,
"cdna_start": 1710,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001128176.3",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121648.1",
"strand": false,
"transcript": "NM_001128176.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7567,
"cdna_start": 1736,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001128177.2",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121649.1",
"strand": false,
"transcript": "NM_001128177.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7665,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001252634.2",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001239563.1",
"strand": false,
"transcript": "NM_001252634.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7807,
"cdna_start": 1976,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001354708.2",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341637.1",
"strand": false,
"transcript": "NM_001354708.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7344,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001354709.2",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341638.1",
"strand": false,
"transcript": "NM_001354709.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7433,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001354710.2",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341639.1",
"strand": false,
"transcript": "NM_001354710.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7287,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001354711.2",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341640.1",
"strand": false,
"transcript": "NM_001354711.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7395,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001354713.2",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341642.1",
"strand": false,
"transcript": "NM_001354713.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7366,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001374822.1",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361751.1",
"strand": false,
"transcript": "NM_001374822.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7498,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001374823.1",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361752.1",
"strand": false,
"transcript": "NM_001374823.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7671,
"cdna_start": 1840,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001374824.1",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361753.1",
"strand": false,
"transcript": "NM_001374824.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7378,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001374825.1",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361754.1",
"strand": false,
"transcript": "NM_001374825.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7532,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001374826.1",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361755.1",
"strand": false,
"transcript": "NM_001374826.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7402,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000396671.7",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379904.2",
"strand": false,
"transcript": "ENST00000396671.7",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2571,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000416420.5",
"gene_hgnc_id": 11799,
"gene_symbol": "THRB",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414444.1",
"strand": false,
"transcript": "ENST00000416420.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5444,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000642307.1",
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