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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: 7-117587820-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=117587820&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"PM1",
"PP2",
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CFTR",
"hgnc_id": 1884,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Ile556Val",
"inheritance_mode": "AD,AR",
"pathogenic_score": 3,
"score": -17,
"transcript": "NM_000492.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM1,PP2,BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -17,
"allele_count_reference_population": 2026,
"alphamissense_prediction": null,
"alphamissense_score": 0.1182,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "7",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "CFTR-related disorder,Cystic fibrosis,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2 LB:5 B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.007845759391784668,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "I",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6070,
"cdna_start": 1736,
"cds_end": null,
"cds_length": 4443,
"cds_start": 1666,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_000492.4",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Ile556Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000003084.11",
"protein_coding": true,
"protein_id": "NP_000483.3",
"strand": true,
"transcript": "NM_000492.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "I",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6070,
"cdna_start": 1736,
"cds_end": null,
"cds_length": 4443,
"cds_start": 1666,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000003084.11",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Ile556Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000492.4",
"protein_coding": true,
"protein_id": "ENSP00000003084.6",
"strand": true,
"transcript": "ENST00000003084.11",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1478,
"aa_ref": "I",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6024,
"cdna_start": 1773,
"cds_end": null,
"cds_length": 4437,
"cds_start": 1666,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000699602.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Ile556Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514471.1",
"strand": true,
"transcript": "ENST00000699602.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "I",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6023,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 4356,
"cds_start": 1666,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000889206.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Ile556Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559265.1",
"strand": true,
"transcript": "ENST00000889206.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "I",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 4353,
"cds_start": 1666,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000889209.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Ile556Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559268.1",
"strand": true,
"transcript": "ENST00000889209.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "I",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4316,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 4316,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000426809.5",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.1576A>G",
"hgvs_p": "p.Ile526Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389119.1",
"strand": true,
"transcript": "ENST00000426809.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "I",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5941,
"cdna_start": 1736,
"cds_end": null,
"cds_length": 4314,
"cds_start": 1666,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000889208.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Ile556Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559267.1",
"strand": true,
"transcript": "ENST00000889208.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "I",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5824,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 4260,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000649781.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.1483A>G",
"hgvs_p": "p.Ile495Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497203.1",
"strand": true,
"transcript": "ENST00000649781.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1376,
"aa_ref": "I",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5753,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 4131,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000889210.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.1483A>G",
"hgvs_p": "p.Ile495Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559269.1",
"strand": true,
"transcript": "ENST00000889210.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1354,
"aa_ref": "I",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5720,
"cdna_start": 1581,
"cds_end": null,
"cds_length": 4065,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000889207.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.1483A>G",
"hgvs_p": "p.Ile495Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559266.1",
"strand": true,
"transcript": "ENST00000889207.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1338,
"aa_ref": "I",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5919,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 4017,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000699605.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.1240A>G",
"hgvs_p": "p.Ile414Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514473.1",
"strand": true,
"transcript": "ENST00000699605.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "I",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3758,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 3564,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000649406.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.1483A>G",
"hgvs_p": "p.Ile495Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497965.1",
"strand": true,
"transcript": "ENST00000649406.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1135,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5096,
"cdna_start": null,
"cds_end": null,
"cds_length": 3408,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950799.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.1585-15006A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620858.1",
"strand": true,
"transcript": "ENST00000950799.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 842,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": null,
"cds_end": null,
"cds_length": 2529,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648260.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.1402-15006A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497957.1",
"strand": true,
"transcript": "ENST00000648260.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5804,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000647720.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.1666A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497673.2",
"strand": true,
"transcript": "ENST00000647720.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5898,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000647978.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.*1380A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497658.1",
"strand": true,
"transcript": "ENST00000647978.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6223,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000685018.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.1666A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510194.2",
"strand": true,
"transcript": "ENST00000685018.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4888,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000687278.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.1666A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509593.2",
"strand": true,
"transcript": "ENST00000687278.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000699585.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.1666A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514456.1",
"strand": true,
"transcript": "ENST00000699585.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000699598.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.1666A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514467.1",
"strand": true,
"transcript": "ENST00000699598.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5054,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000699599.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
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]
}