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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: 9-99137895-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=99137895&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 99137895,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000374994.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.611C>T",
"hgvs_p": "p.Thr204Ile",
"transcript": "NM_004612.4",
"protein_id": "NP_004603.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 503,
"cds_start": 611,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": "ENST00000374994.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.611C>T",
"hgvs_p": "p.Thr204Ile",
"transcript": "ENST00000374994.9",
"protein_id": "ENSP00000364133.4",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 503,
"cds_start": 611,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": "NM_004612.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Thr208Ile",
"transcript": "ENST00000552516.5",
"protein_id": "ENSP00000447297.1",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 507,
"cds_start": 623,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Thr127Ile",
"transcript": "ENST00000374990.6",
"protein_id": "ENSP00000364129.2",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 426,
"cds_start": 380,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 5720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Thr208Ile",
"transcript": "NM_001306210.2",
"protein_id": "NP_001293139.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 507,
"cds_start": 623,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 6504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.611C>T",
"hgvs_p": "p.Thr204Ile",
"transcript": "ENST00000714345.1",
"protein_id": "ENSP00000519616.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 502,
"cds_start": 611,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 6004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.611C>T",
"hgvs_p": "p.Thr204Ile",
"transcript": "ENST00000714348.1",
"protein_id": "ENSP00000519619.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 477,
"cds_start": 611,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 5859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.623C>T",
"hgvs_p": "p.Thr208Ile",
"transcript": "NM_001407416.1",
"protein_id": "NP_001394345.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 451,
"cds_start": 623,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 6336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.611C>T",
"hgvs_p": "p.Thr204Ile",
"transcript": "NM_001407417.1",
"protein_id": "NP_001394346.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 447,
"cds_start": 611,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 6324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Ile",
"transcript": "NM_001407418.1",
"protein_id": "NP_001394347.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 438,
"cds_start": 416,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 6409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Ile",
"transcript": "NM_001407419.1",
"protein_id": "NP_001394348.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 438,
"cds_start": 416,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Ile",
"transcript": "NM_001407420.1",
"protein_id": "NP_001394349.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 438,
"cds_start": 416,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 6640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Ile",
"transcript": "NM_001407422.1",
"protein_id": "NP_001394351.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 438,
"cds_start": 416,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 6609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Ile",
"transcript": "ENST00000552573.7",
"protein_id": "ENSP00000447182.3",
"transcript_support_level": 4,
"aa_start": 139,
"aa_end": null,
"aa_length": 438,
"cds_start": 416,
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"cdna_start": 563,
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"cdna_length": 6351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Ile",
"transcript": "ENST00000698941.1",
"protein_id": "ENSP00000514048.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 438,
"cds_start": 416,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Thr135Ile",
"transcript": "NM_001407423.1",
"protein_id": "NP_001394352.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 434,
"cds_start": 404,
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"cds_length": 1305,
"cdna_start": 609,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Thr135Ile",
"transcript": "NM_001407424.1",
"protein_id": "NP_001394353.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 434,
"cds_start": 404,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Thr135Ile",
"transcript": "NM_001407425.1",
"protein_id": "NP_001394354.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 434,
"cds_start": 404,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Thr135Ile",
"transcript": "NM_001407426.1",
"protein_id": "NP_001394355.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 434,
"cds_start": 404,
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"cdna_start": 809,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Thr135Ile",
"transcript": "NM_001407427.1",
"protein_id": "NP_001394356.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 434,
"cds_start": 404,
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"cdna_start": 732,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Thr135Ile",
"transcript": "NM_001407428.1",
"protein_id": "NP_001394357.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 434,
"cds_start": 404,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 6552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Thr135Ile",
"transcript": "NM_001407429.1",
"protein_id": "NP_001394358.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 434,
"cds_start": 404,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 6628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.404C>T",
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],
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"computational_score_selected": 0.8452376127243042,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.826,
"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.86,
"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
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"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000374994.9",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Familial thoracic aortic aneurysm and aortic dissection,Loeys-Dietz syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection|not provided|Loeys-Dietz syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}