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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: 9-129147457-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=129147457&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PTPA",
"hgnc_id": 9308,
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Ser357Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_178001.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000235007",
"hgnc_id": null,
"hgvs_c": "c.108+4905C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000674648.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 124695,
"alphamissense_prediction": null,
"alphamissense_score": 0.129,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.001736670732498169,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 323,
"aa_ref": "S",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 972,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_178000.3",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Ser322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393370.7",
"protein_coding": true,
"protein_id": "NP_821067.1",
"strand": true,
"transcript": "NM_178000.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 323,
"aa_ref": "S",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 972,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000393370.7",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Ser322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_178000.3",
"protein_coding": true,
"protein_id": "ENSP00000377036.2",
"strand": true,
"transcript": "ENST00000393370.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 373,
"aa_ref": "S",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2664,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1122,
"cds_start": 1115,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000358994.9",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.1115C>T",
"hgvs_p": "p.Ser372Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351885.5",
"strand": true,
"transcript": "ENST00000358994.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "S",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 867,
"cds_start": 860,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000452489.6",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.860C>T",
"hgvs_p": "p.Ser287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394338.3",
"strand": true,
"transcript": "ENST00000452489.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 104,
"aa_ref": "S",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1989,
"cdna_start": 500,
"cds_end": null,
"cds_length": 315,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000347048.8",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Ser103Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337412.4",
"strand": true,
"transcript": "ENST00000347048.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 61,
"aa_ref": "S",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1153,
"cdna_start": 323,
"cds_end": null,
"cds_length": 186,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000414510.5",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408726.1",
"strand": true,
"transcript": "ENST00000414510.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 61,
"aa_ref": "S",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 952,
"cdna_start": 452,
"cds_end": null,
"cds_length": 186,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000419582.5",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394001.1",
"strand": true,
"transcript": "ENST00000419582.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 81,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": null,
"cds_end": null,
"cds_length": 246,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674648.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000235007",
"hgvs_c": "c.108+4905C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502744.1",
"strand": true,
"transcript": "ENST00000674648.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 358,
"aa_ref": "S",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 1256,
"cds_end": null,
"cds_length": 1077,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_178001.3",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Ser357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_821068.1",
"strand": true,
"transcript": "NM_178001.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 358,
"aa_ref": "S",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1077,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000337738.6",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Ser357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337448.1",
"strand": true,
"transcript": "ENST00000337738.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 358,
"aa_ref": "S",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1077,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000868578.1",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Ser357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538637.1",
"strand": true,
"transcript": "ENST00000868578.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 358,
"aa_ref": "S",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2771,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 1077,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000918676.1",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Ser357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588735.1",
"strand": true,
"transcript": "ENST00000918676.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 329,
"aa_ref": "S",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 990,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000348141.9",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Ser328Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000335200.6",
"strand": true,
"transcript": "ENST00000348141.9",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 323,
"aa_ref": "S",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 972,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_021131.5",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Ser322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066954.2",
"strand": true,
"transcript": "NM_021131.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 323,
"aa_ref": "S",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 972,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000918674.1",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Ser322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588733.1",
"strand": true,
"transcript": "ENST00000918674.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 294,
"aa_ref": "S",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2553,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 885,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001271832.2",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ser293Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258761.1",
"strand": true,
"transcript": "NM_001271832.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 294,
"aa_ref": "S",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 885,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000357197.8",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ser293Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349726.4",
"strand": true,
"transcript": "ENST00000357197.8",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 294,
"aa_ref": "S",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 885,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000918675.1",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ser293Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588734.1",
"strand": true,
"transcript": "ENST00000918675.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "S",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 867,
"cds_start": 860,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001193397.2",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.860C>T",
"hgvs_p": "p.Ser287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180326.1",
"strand": true,
"transcript": "NM_001193397.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 281,
"aa_ref": "S",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 846,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_178003.3",
"gene_hgnc_id": 9308,
"gene_symbol": "PTPA",
"hgvs_c": "c.839C>T",
"hgvs_p": "p.Ser280Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_821070.1",
"strand": true,
"transcript": "NM_178003.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 281,
"aa_ref": "S",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2515,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 846,
"cds_start": 839,
"consequences": [
"missense_variant"
],
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