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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: 3-24122912-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=24122912&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 24122912,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000461.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_001354712.2",
"protein_id": "NP_001341641.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000646209.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354712.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "ENST00000646209.2",
"protein_id": "ENSP00000496686.2",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001354712.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646209.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "ENST00000356447.9",
"protein_id": "ENSP00000348827.4",
"transcript_support_level": 1,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356447.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1403C>T",
"hgvs_p": "p.Pro468Leu",
"transcript": "ENST00000280696.9",
"protein_id": "ENSP00000280696.5",
"transcript_support_level": 5,
"aa_start": 468,
"aa_end": null,
"aa_length": 476,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280696.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_000461.5",
"protein_id": "NP_000452.2",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000461.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_001128176.3",
"protein_id": "NP_001121648.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128176.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_001128177.2",
"protein_id": "NP_001121649.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128177.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_001252634.2",
"protein_id": "NP_001239563.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252634.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_001354708.2",
"protein_id": "NP_001341637.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354708.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_001354709.2",
"protein_id": "NP_001341638.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354709.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_001354710.2",
"protein_id": "NP_001341639.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354710.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_001354711.2",
"protein_id": "NP_001341640.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354711.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_001354713.2",
"protein_id": "NP_001341642.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354713.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_001374822.1",
"protein_id": "NP_001361751.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374822.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_001374823.1",
"protein_id": "NP_001361752.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374823.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_001374824.1",
"protein_id": "NP_001361753.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374824.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_001374825.1",
"protein_id": "NP_001361754.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374825.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "NM_001374826.1",
"protein_id": "NP_001361755.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374826.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "ENST00000396671.7",
"protein_id": "ENSP00000379904.2",
"transcript_support_level": 5,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396671.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "ENST00000416420.5",
"protein_id": "ENSP00000414444.1",
"transcript_support_level": 2,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416420.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "ENST00000642307.1",
"protein_id": "ENSP00000494618.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642307.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "ENST00000643772.1",
"protein_id": "ENSP00000496029.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 461,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Pathogenic",
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{
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"criteria": [
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"PM5",
"PP2",
"PP3_Strong",
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],
"verdict": "Pathogenic",
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"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Thyroid hormone resistance, generalized, autosomal dominant",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}