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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: 1-54179279-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=54179279&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYB5RL",
"hgnc_id": 32220,
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Asp205Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001031672.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000256407",
"hgnc_id": null,
"hgvs_c": "n.303+4882A>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000637610.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1099,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5713752508163452,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 315,
"aa_ref": "D",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6193,
"cdna_start": 891,
"cds_end": null,
"cds_length": 948,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001031672.4",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Asp205Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000534324.6",
"protein_coding": true,
"protein_id": "NP_001026842.2",
"strand": false,
"transcript": "NM_001031672.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 315,
"aa_ref": "D",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6193,
"cdna_start": 891,
"cds_end": null,
"cds_length": 948,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000534324.6",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Asp205Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001031672.4",
"protein_coding": true,
"protein_id": "ENSP00000434343.1",
"strand": false,
"transcript": "ENST00000534324.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000420054.5",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "n.*608A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403021.1",
"strand": false,
"transcript": "ENST00000420054.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3339,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000421415.5",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "n.*252A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000394709.1",
"strand": false,
"transcript": "ENST00000421415.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000528287.5",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "n.*252A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431428.1",
"strand": false,
"transcript": "ENST00000528287.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000420054.5",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "n.*608A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403021.1",
"strand": false,
"transcript": "ENST00000420054.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3339,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000421415.5",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "n.*252A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000394709.1",
"strand": false,
"transcript": "ENST00000421415.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000528287.5",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "n.*252A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431428.1",
"strand": false,
"transcript": "ENST00000528287.5",
"transcript_support_level": 1
},
{
"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": 2542,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637610.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000256407",
"hgvs_c": "n.303+4882A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490901.1",
"strand": false,
"transcript": "ENST00000637610.1",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 315,
"aa_ref": "D",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3428,
"cdna_start": 811,
"cds_end": null,
"cds_length": 948,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886275.1",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Asp205Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556334.1",
"strand": false,
"transcript": "ENST00000886275.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 315,
"aa_ref": "D",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3945,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 948,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913265.1",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Asp205Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583324.1",
"strand": false,
"transcript": "ENST00000913265.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 289,
"aa_ref": "D",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 810,
"cds_end": null,
"cds_length": 870,
"cds_start": 536,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886276.1",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "c.536A>C",
"hgvs_p": "p.Asp179Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556335.1",
"strand": false,
"transcript": "ENST00000886276.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 236,
"aa_ref": "D",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5956,
"cdna_start": 654,
"cds_end": null,
"cds_length": 711,
"cds_start": 377,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001353353.2",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "c.377A>C",
"hgvs_p": "p.Asp126Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340282.1",
"strand": false,
"transcript": "NM_001353353.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 236,
"aa_ref": "D",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 647,
"cds_end": null,
"cds_length": 711,
"cds_start": 377,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886277.1",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "c.377A>C",
"hgvs_p": "p.Asp126Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556336.1",
"strand": false,
"transcript": "ENST00000886277.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 236,
"aa_ref": "D",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": 542,
"cds_end": null,
"cds_length": 711,
"cds_start": 377,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886278.1",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "c.377A>C",
"hgvs_p": "p.Asp126Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556337.1",
"strand": false,
"transcript": "ENST00000886278.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 176,
"aa_ref": "D",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 602,
"cdna_start": 356,
"cds_end": null,
"cds_length": 531,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000493530.2",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "c.356A>C",
"hgvs_p": "p.Asp119Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434606.1",
"strand": false,
"transcript": "ENST00000493530.2",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 167,
"aa_ref": "D",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6044,
"cdna_start": 742,
"cds_end": null,
"cds_length": 504,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001353354.2",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "c.170A>C",
"hgvs_p": "p.Asp57Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340283.1",
"strand": false,
"transcript": "NM_001353354.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 247,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5777,
"cdna_start": null,
"cds_end": null,
"cds_length": 744,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000287899.13",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "c.541-4457A>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000287899.8",
"strand": false,
"transcript": "ENST00000287899.13",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 221,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3195,
"cdna_start": null,
"cds_end": null,
"cds_length": 666,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963052.1",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "c.463-4457A>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633111.1",
"strand": false,
"transcript": "ENST00000963052.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": null,
"cds_end": null,
"cds_length": 507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963051.1",
"gene_hgnc_id": 32220,
"gene_symbol": "CYB5RL",
"hgvs_c": "c.304-4457A>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633110.1",
"strand": false,
"transcript": "ENST00000963051.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5643,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
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