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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: 9-99142665-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=99142665&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 99142665,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000374994.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Gly312Asp",
"transcript": "NM_004612.4",
"protein_id": "NP_004603.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 503,
"cds_start": 935,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": "ENST00000374994.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Gly312Asp",
"transcript": "ENST00000374994.9",
"protein_id": "ENSP00000364133.4",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 503,
"cds_start": 935,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": "NM_004612.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Gly316Asp",
"transcript": "ENST00000552516.5",
"protein_id": "ENSP00000447297.1",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 507,
"cds_start": 947,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.704G>A",
"hgvs_p": "p.Gly235Asp",
"transcript": "ENST00000374990.6",
"protein_id": "ENSP00000364129.2",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 426,
"cds_start": 704,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 5720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Gly316Asp",
"transcript": "NM_001306210.2",
"protein_id": "NP_001293139.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 507,
"cds_start": 947,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 6504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Gly312Asp",
"transcript": "ENST00000714345.1",
"protein_id": "ENSP00000519616.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 502,
"cds_start": 935,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 6004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Gly312Asp",
"transcript": "ENST00000714348.1",
"protein_id": "ENSP00000519619.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 477,
"cds_start": 935,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 5859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Gly247Asp",
"transcript": "NM_001407418.1",
"protein_id": "NP_001394347.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 438,
"cds_start": 740,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 6409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Gly247Asp",
"transcript": "NM_001407419.1",
"protein_id": "NP_001394348.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 438,
"cds_start": 740,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Gly247Asp",
"transcript": "NM_001407420.1",
"protein_id": "NP_001394349.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 438,
"cds_start": 740,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 6640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Gly247Asp",
"transcript": "NM_001407422.1",
"protein_id": "NP_001394351.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 438,
"cds_start": 740,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 6609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Gly247Asp",
"transcript": "ENST00000552573.7",
"protein_id": "ENSP00000447182.3",
"transcript_support_level": 4,
"aa_start": 247,
"aa_end": null,
"aa_length": 438,
"cds_start": 740,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 6351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Gly247Asp",
"transcript": "ENST00000698941.1",
"protein_id": "ENSP00000514048.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 438,
"cds_start": 740,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
"transcript": "NM_001407423.1",
"protein_id": "NP_001394352.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 434,
"cds_start": 728,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 6397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
"transcript": "NM_001407424.1",
"protein_id": "NP_001394353.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 434,
"cds_start": 728,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
"transcript": "NM_001407425.1",
"protein_id": "NP_001394354.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 434,
"cds_start": 728,
"cds_end": null,
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"cdna_start": 909,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
"transcript": "NM_001407426.1",
"protein_id": "NP_001394355.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 434,
"cds_start": 728,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
"transcript": "NM_001407427.1",
"protein_id": "NP_001394356.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 434,
"cds_start": 728,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 6520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
"transcript": "NM_001407428.1",
"protein_id": "NP_001394357.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 434,
"cds_start": 728,
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"cds_length": 1305,
"cdna_start": 1088,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
"transcript": "NM_001407429.1",
"protein_id": "NP_001394358.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 434,
"cds_start": 728,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1164,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
"transcript": "NM_001407430.1",
"protein_id": "NP_001394359.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 434,
"cds_start": 728,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 6430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
"transcript": "NM_001407432.1",
"protein_id": "NP_001394361.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 434,
"cds_start": 728,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 6481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Gly243Asp",
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}
],
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"dbsnp": "rs869025535",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
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"computational_score_selected": 0.9921745657920837,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.961,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
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"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000374994.9",
"gene_symbol": "TGFBR1",
"hgnc_id": 11772,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Gly312Asp"
}
],
"clinvar_disease": "Disproportionate tall stature,Familial thoracic aortic aneurysm and aortic dissection,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection|not provided|Familial thoracic aortic aneurysm and aortic dissection;Disproportionate tall stature",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}