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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: 10-79558907-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=79558907&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SFTPA2",
"hgnc_id": 10799,
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Ala101Pro",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001320814.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 249356,
"alphamissense_prediction": null,
"alphamissense_score": 0.046,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "10",
"clinvar_classification": "Benign",
"clinvar_disease": "SFTPA2-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.018847167491912842,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 368,
"cds_end": null,
"cds_length": 747,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001098668.4",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372325.7",
"protein_coding": true,
"protein_id": "NP_001092138.1",
"strand": false,
"transcript": "NM_001098668.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 368,
"cds_end": null,
"cds_length": 747,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000372325.7",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001098668.4",
"protein_coding": true,
"protein_id": "ENSP00000361400.2",
"strand": false,
"transcript": "ENST00000372325.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 815,
"cdna_start": 317,
"cds_end": null,
"cds_length": 747,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000372327.9",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361402.5",
"strand": false,
"transcript": "ENST00000372327.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 390,
"cds_end": null,
"cds_length": 876,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000959071.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629130.1",
"strand": false,
"transcript": "ENST00000959071.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2392,
"cdna_start": 480,
"cds_end": null,
"cds_length": 855,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905087.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575146.1",
"strand": false,
"transcript": "ENST00000905087.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 390,
"cds_end": null,
"cds_length": 855,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905092.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575151.1",
"strand": false,
"transcript": "ENST00000905092.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 461,
"cds_end": null,
"cds_length": 855,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905105.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575164.1",
"strand": false,
"transcript": "ENST00000905105.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 337,
"cds_end": null,
"cds_length": 855,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959077.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629136.1",
"strand": false,
"transcript": "ENST00000959077.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2736,
"cdna_start": 829,
"cds_end": null,
"cds_length": 855,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959082.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629141.1",
"strand": false,
"transcript": "ENST00000959082.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 528,
"cds_end": null,
"cds_length": 855,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000959085.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629144.1",
"strand": false,
"transcript": "ENST00000959085.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 558,
"cds_end": null,
"cds_length": 855,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000959088.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629147.1",
"strand": false,
"transcript": "ENST00000959088.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 258,
"aa_ref": "A",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 491,
"cds_end": null,
"cds_length": 777,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001320814.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Ala101Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307743.1",
"strand": false,
"transcript": "NM_001320814.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 248,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2204,
"cdna_start": 371,
"cds_end": null,
"cds_length": 747,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320813.2",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307742.1",
"strand": false,
"transcript": "NM_001320813.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": 338,
"cds_end": null,
"cds_length": 747,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001437428.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424357.1",
"strand": false,
"transcript": "NM_001437428.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 248,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 747,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000905085.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575144.1",
"strand": false,
"transcript": "ENST00000905085.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 493,
"cds_end": null,
"cds_length": 747,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905086.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575145.1",
"strand": false,
"transcript": "ENST00000905086.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2365,
"cdna_start": 561,
"cds_end": null,
"cds_length": 747,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905088.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575147.1",
"strand": false,
"transcript": "ENST00000905088.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 467,
"cds_end": null,
"cds_length": 747,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905089.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575148.1",
"strand": false,
"transcript": "ENST00000905089.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 248,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 395,
"cds_end": null,
"cds_length": 747,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905090.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575149.1",
"strand": false,
"transcript": "ENST00000905090.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 769,
"cds_end": null,
"cds_length": 747,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905091.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575150.1",
"strand": false,
"transcript": "ENST00000905091.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 605,
"cds_end": null,
"cds_length": 747,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905093.1",
"gene_hgnc_id": 10799,
"gene_symbol": "SFTPA2",
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Ala91Pro",
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