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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: 1-159919712-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=159919712&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TAGLN2",
"hgnc_id": 11554,
"hgvs_c": "c.367C>A",
"hgvs_p": "p.Arg123Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001277224.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1904,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16639217734336853,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1375,
"cdna_start": 390,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_003564.3",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368097.9",
"protein_coding": true,
"protein_id": "NP_003555.1",
"strand": false,
"transcript": "NM_003564.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1375,
"cdna_start": 390,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000368097.9",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003564.3",
"protein_coding": true,
"protein_id": "ENSP00000357077.5",
"strand": false,
"transcript": "ENST00000368097.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1603,
"cdna_start": 614,
"cds_end": null,
"cds_length": 663,
"cds_start": 367,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000368096.5",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.367C>A",
"hgvs_p": "p.Arg123Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357076.1",
"strand": false,
"transcript": "ENST00000368096.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 236,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 408,
"cds_end": null,
"cds_length": 711,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854583.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524642.1",
"strand": false,
"transcript": "ENST00000854583.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1616,
"cdna_start": 631,
"cds_end": null,
"cds_length": 663,
"cds_start": 367,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001277224.2",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.367C>A",
"hgvs_p": "p.Arg123Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001264153.1",
"strand": false,
"transcript": "NM_001277224.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 434,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001277223.2",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001264152.1",
"strand": false,
"transcript": "NM_001277223.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 709,
"cdna_start": 390,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000320307.8",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357075.1",
"strand": false,
"transcript": "ENST00000320307.8",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 452,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854582.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524641.1",
"strand": false,
"transcript": "ENST00000854582.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1383,
"cdna_start": 401,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854585.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524644.1",
"strand": false,
"transcript": "ENST00000854585.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 434,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854586.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524645.1",
"strand": false,
"transcript": "ENST00000854586.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": 888,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854587.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524646.1",
"strand": false,
"transcript": "ENST00000854587.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1493,
"cdna_start": 504,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854588.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524647.1",
"strand": false,
"transcript": "ENST00000854588.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1445,
"cdna_start": 456,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854589.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524648.1",
"strand": false,
"transcript": "ENST00000854589.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": 506,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854590.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524649.1",
"strand": false,
"transcript": "ENST00000854590.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1540,
"cdna_start": 555,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854591.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524650.1",
"strand": false,
"transcript": "ENST00000854591.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1439,
"cdna_start": 451,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854592.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524651.1",
"strand": false,
"transcript": "ENST00000854592.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1417,
"cdna_start": 429,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854593.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524652.1",
"strand": false,
"transcript": "ENST00000854593.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1445,
"cdna_start": 464,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
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],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915454.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585513.1",
"strand": false,
"transcript": "ENST00000915454.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 199,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 4078,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000915455.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585514.1",
"strand": false,
"transcript": "ENST00000915455.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1401,
"cdna_start": 420,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000956570.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626629.1",
"strand": false,
"transcript": "ENST00000956570.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": 524,
"cds_end": null,
"cds_length": 600,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000956571.1",
"gene_hgnc_id": 11554,
"gene_symbol": "TAGLN2",
"hgvs_c": "c.304C>A",
"hgvs_p": "p.Arg102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626630.1",
"strand": false,
"transcript": "ENST00000956571.1",
"transcript_support_level": null
},
{
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