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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: 9-127871828-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127871828&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "AK1",
"hgnc_id": 361,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123*",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_001318122.2",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000257524",
"hgnc_id": null,
"hgvs_c": "n.*352C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 14,
"score": 14,
"transcript": "ENST00000646171.1",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ST6GALNAC4-ST6GALNAC6-AK1",
"hgnc_id": null,
"hgvs_c": "n.3638C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 14,
"score": 14,
"transcript": "NR_174625.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "9",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Hemolytic anemia due to adenylate kinase deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 404,
"cds_end": null,
"cds_length": 585,
"cds_start": 319,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000476.3",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644144.2",
"protein_coding": true,
"protein_id": "NP_000467.1",
"strand": false,
"transcript": "NM_000476.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 404,
"cds_end": null,
"cds_length": 585,
"cds_start": 319,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000644144.2",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000476.3",
"protein_coding": true,
"protein_id": "ENSP00000494600.1",
"strand": false,
"transcript": "ENST00000644144.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000646171.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000257524",
"hgvs_c": "n.*352C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495484.1",
"strand": false,
"transcript": "ENST00000646171.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000646171.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000257524",
"hgvs_c": "n.*352C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495484.1",
"strand": false,
"transcript": "ENST00000646171.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 210,
"aa_ref": "R",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 399,
"cds_end": null,
"cds_length": 633,
"cds_start": 367,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318122.2",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305051.1",
"strand": false,
"transcript": "NM_001318122.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 210,
"aa_ref": "R",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 736,
"cdna_start": 463,
"cds_end": null,
"cds_length": 633,
"cds_start": 367,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000223836.10",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000223836.10",
"strand": false,
"transcript": "ENST00000223836.10",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 202,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 862,
"cdna_start": 404,
"cds_end": null,
"cds_length": 609,
"cds_start": 319,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954057.1",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624116.1",
"strand": false,
"transcript": "ENST00000954057.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": 459,
"cds_end": null,
"cds_length": 585,
"cds_start": 319,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001318121.1",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305050.1",
"strand": false,
"transcript": "NM_001318121.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 757,
"cdna_start": 482,
"cds_end": null,
"cds_length": 585,
"cds_start": 319,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373156.5",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362249.1",
"strand": false,
"transcript": "ENST00000373156.5",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 837,
"cdna_start": 402,
"cds_end": null,
"cds_length": 585,
"cds_start": 319,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904239.1",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574298.1",
"strand": false,
"transcript": "ENST00000904239.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 995,
"cdna_start": 563,
"cds_end": null,
"cds_length": 585,
"cds_start": 319,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000904242.1",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574301.1",
"strand": false,
"transcript": "ENST00000904242.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 821,
"cdna_start": 388,
"cds_end": null,
"cds_length": 585,
"cds_start": 319,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904243.1",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574302.1",
"strand": false,
"transcript": "ENST00000904243.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 943,
"cdna_start": 510,
"cds_end": null,
"cds_length": 585,
"cds_start": 319,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904244.1",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574303.1",
"strand": false,
"transcript": "ENST00000904244.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 880,
"cdna_start": 445,
"cds_end": null,
"cds_length": 585,
"cds_start": 319,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954052.1",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624111.1",
"strand": false,
"transcript": "ENST00000954052.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 483,
"cds_end": null,
"cds_length": 585,
"cds_start": 319,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954053.1",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624112.1",
"strand": false,
"transcript": "ENST00000954053.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": 878,
"cds_end": null,
"cds_length": 585,
"cds_start": 319,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954059.1",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624118.1",
"strand": false,
"transcript": "ENST00000954059.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 975,
"cds_end": null,
"cds_length": 585,
"cds_start": 319,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954060.1",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624119.1",
"strand": false,
"transcript": "ENST00000954060.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": 403,
"cds_end": null,
"cds_length": 585,
"cds_start": 319,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954061.1",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624120.1",
"strand": false,
"transcript": "ENST00000954061.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 193,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 835,
"cdna_start": 401,
"cds_end": null,
"cds_length": 582,
"cds_start": 316,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000904240.1",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574299.1",
"strand": false,
"transcript": "ENST00000904240.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 193,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 836,
"cdna_start": 401,
"cds_end": null,
"cds_length": 582,
"cds_start": 316,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954055.1",
"gene_hgnc_id": 361,
"gene_symbol": "AK1",
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624114.1",
"strand": false,
"transcript": "ENST00000954055.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
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]
}