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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: 22-37066082-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37066082&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37066082,
"ref": "A",
"alt": "C",
"effect": "stop_lost",
"transcript": "NM_001289000.2",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2407T>G",
"hgvs_p": "p.Ter803Glyext*?",
"transcript": "NM_001374504.1",
"protein_id": "NP_001361433.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 802,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000676104.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374504.1"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2407T>G",
"hgvs_p": "p.Ter803Glyext*?",
"transcript": "ENST00000676104.1",
"protein_id": "ENSP00000501573.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 802,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001374504.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676104.1"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2473T>G",
"hgvs_p": "p.Ter825Glyext*?",
"transcript": "ENST00000406856.7",
"protein_id": "ENSP00000384964.1",
"transcript_support_level": 1,
"aa_start": 825,
"aa_end": null,
"aa_length": 824,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406856.7"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2407T>G",
"hgvs_p": "p.Ter803Glyext*?",
"transcript": "ENST00000346753.9",
"protein_id": "ENSP00000334962.6",
"transcript_support_level": 1,
"aa_start": 803,
"aa_end": null,
"aa_length": 802,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346753.9"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2407T>G",
"hgvs_p": "p.Ter803Glyext*?",
"transcript": "ENST00000406725.6",
"protein_id": "ENSP00000385453.1",
"transcript_support_level": 1,
"aa_start": 803,
"aa_end": null,
"aa_length": 802,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406725.6"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2542T>G",
"hgvs_p": "p.Ter848Glyext*?",
"transcript": "ENST00000862848.1",
"protein_id": "ENSP00000532907.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 847,
"cds_start": 2542,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862848.1"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2509T>G",
"hgvs_p": "p.Ter837Glyext*?",
"transcript": "ENST00000862852.1",
"protein_id": "ENSP00000532911.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 836,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862852.1"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2476T>G",
"hgvs_p": "p.Ter826Glyext*?",
"transcript": "ENST00000862846.1",
"protein_id": "ENSP00000532905.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 825,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862846.1"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2476T>G",
"hgvs_p": "p.Ter826Glyext*?",
"transcript": "ENST00000862856.1",
"protein_id": "ENSP00000532915.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 825,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862856.1"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2473T>G",
"hgvs_p": "p.Ter825Glyext*?",
"transcript": "NM_001289000.2",
"protein_id": "NP_001275929.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 824,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289000.2"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2473T>G",
"hgvs_p": "p.Ter825Glyext*?",
"transcript": "ENST00000381792.6",
"protein_id": "ENSP00000371211.2",
"transcript_support_level": 5,
"aa_start": 825,
"aa_end": null,
"aa_length": 824,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381792.6"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2473T>G",
"hgvs_p": "p.Ter825Glyext*?",
"transcript": "ENST00000862826.1",
"protein_id": "ENSP00000532884.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 824,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862826.1"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2473T>G",
"hgvs_p": "p.Ter825Glyext*?",
"transcript": "ENST00000862853.1",
"protein_id": "ENSP00000532912.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 824,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862853.1"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2440T>G",
"hgvs_p": "p.Ter814Glyext*?",
"transcript": "ENST00000862835.1",
"protein_id": "ENSP00000532894.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 813,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862835.1"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2437T>G",
"hgvs_p": "p.Ter813Glyext*?",
"transcript": "ENST00000862850.1",
"protein_id": "ENSP00000532909.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 812,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862850.1"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2431T>G",
"hgvs_p": "p.Ter811Glyext*?",
"transcript": "ENST00000862849.1",
"protein_id": "ENSP00000532908.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 810,
"cds_start": 2431,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862849.1"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2407T>G",
"hgvs_p": "p.Ter803Glyext*?",
"transcript": "NM_001289001.2",
"protein_id": "NP_001275930.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 802,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289001.2"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2407T>G",
"hgvs_p": "p.Ter803Glyext*?",
"transcript": "NM_153609.4",
"protein_id": "NP_705837.2",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 802,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153609.4"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2407T>G",
"hgvs_p": "p.Ter803Glyext*?",
"transcript": "ENST00000862824.1",
"protein_id": "ENSP00000532883.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 802,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862824.1"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2407T>G",
"hgvs_p": "p.Ter803Glyext*?",
"transcript": "ENST00000862837.1",
"protein_id": "ENSP00000532896.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 802,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862837.1"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2407T>G",
"hgvs_p": "p.Ter803Glyext*?",
"transcript": "ENST00000862847.1",
"protein_id": "ENSP00000532906.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 802,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862847.1"
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.2404T>G",
"hgvs_p": "p.Ter802Glyext*?",
"transcript": "ENST00000862827.1",
"protein_id": "ENSP00000532886.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 801,
"cds_start": 2404,
"cds_end": null,
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{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM4",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001289000.2",
"gene_symbol": "TMPRSS6",
"hgnc_id": 16517,
"effects": [
"stop_lost"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2473T>G",
"hgvs_p": "p.Ter825Glyext*?"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}