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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: 10-79612325-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=79612325&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SFTPA1",
"hgnc_id": 10798,
"hgvs_c": "c.231A>G",
"hgvs_p": "p.Pro77Pro",
"inheritance_mode": "AD,SD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_001093770.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 271769,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "10",
"clinvar_classification": "Benign",
"clinvar_disease": "SFTPA1-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 248,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 324,
"cds_end": null,
"cds_length": 747,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_005411.5",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000398636.8",
"protein_coding": true,
"protein_id": "NP_005402.3",
"strand": true,
"transcript": "NM_005411.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 248,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 324,
"cds_end": null,
"cds_length": 747,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000398636.8",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005411.5",
"protein_coding": true,
"protein_id": "ENSP00000381633.3",
"strand": true,
"transcript": "ENST00000398636.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 263,
"aa_ref": "P",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 307,
"cds_end": null,
"cds_length": 792,
"cds_start": 231,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000419470.6",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.231A>G",
"hgvs_p": "p.Pro77Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397082.2",
"strand": true,
"transcript": "ENST00000419470.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 248,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 253,
"cds_end": null,
"cds_length": 747,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000428376.6",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411102.2",
"strand": true,
"transcript": "ENST00000428376.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 157,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 527,
"cdna_start": 239,
"cds_end": null,
"cds_length": 474,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000429958.5",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395527.1",
"strand": true,
"transcript": "ENST00000429958.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2274,
"cdna_start": 253,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000895534.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565593.1",
"strand": true,
"transcript": "ENST00000895534.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 316,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895536.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565595.1",
"strand": true,
"transcript": "ENST00000895536.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 372,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000895538.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565597.1",
"strand": true,
"transcript": "ENST00000895538.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 313,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895541.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565600.1",
"strand": true,
"transcript": "ENST00000895541.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2579,
"cdna_start": 576,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895561.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565620.1",
"strand": true,
"transcript": "ENST00000895561.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": 324,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895566.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565625.1",
"strand": true,
"transcript": "ENST00000895566.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2382,
"cdna_start": 379,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000895575.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565634.1",
"strand": true,
"transcript": "ENST00000895575.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2407,
"cdna_start": 404,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000895576.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565635.1",
"strand": true,
"transcript": "ENST00000895576.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2245,
"cdna_start": 242,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000895579.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565638.1",
"strand": true,
"transcript": "ENST00000895579.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 312,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964042.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634101.1",
"strand": true,
"transcript": "ENST00000964042.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2405,
"cdna_start": 387,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000964044.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634103.1",
"strand": true,
"transcript": "ENST00000964044.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 358,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964055.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634114.1",
"strand": true,
"transcript": "ENST00000964055.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 291,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2345,
"cdna_start": 346,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964071.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634130.1",
"strand": true,
"transcript": "ENST00000964071.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 319,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964077.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634136.1",
"strand": true,
"transcript": "ENST00000964077.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2312,
"cdna_start": 317,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964086.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Pro62Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634145.1",
"strand": true,
"transcript": "ENST00000964086.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": 305,
"cds_end": null,
"cds_length": 876,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964087.1",
"gene_hgnc_id": 10798,
"gene_symbol": "SFTPA1",
"hgvs_c": "c.186A>G",
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]
}