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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: 1-150997337-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150997337&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MINDY1",
"hgnc_id": 25648,
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Gly455Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001376664.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 29,
"alphamissense_prediction": null,
"alphamissense_score": 0.1385,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03133261203765869,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 2040,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001376665.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683666.2",
"protein_coding": true,
"protein_id": "NP_001363594.1",
"strand": false,
"transcript": "NM_001376665.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 2040,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000683666.2",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001376665.1",
"protein_coding": true,
"protein_id": "ENSP00000507359.1",
"strand": false,
"transcript": "ENST00000683666.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2817,
"cdna_start": 2315,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000361936.9",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354814.5",
"strand": false,
"transcript": "ENST00000361936.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 473,
"aa_ref": "G",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000943009.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Gly458Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613068.1",
"strand": false,
"transcript": "ENST00000943009.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 470,
"aa_ref": "G",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 2305,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1363,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001376664.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Gly455Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363593.1",
"strand": false,
"transcript": "NM_001376664.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1725,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001163258.3",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001156730.3",
"strand": false,
"transcript": "NM_001163258.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4295,
"cdna_start": 3494,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001319998.2",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306927.2",
"strand": false,
"transcript": "NM_001319998.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3144,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_018379.5",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060849.3",
"strand": false,
"transcript": "NM_018379.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1725,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000361738.12",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354669.7",
"strand": false,
"transcript": "ENST00000361738.12",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4514,
"cdna_start": 2302,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000888222.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558281.1",
"strand": false,
"transcript": "ENST00000888222.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 2097,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000888224.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558283.1",
"strand": false,
"transcript": "ENST00000888224.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2028,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000931104.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601163.1",
"strand": false,
"transcript": "ENST00000931104.1",
"transcript_support_level": null
},
{
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"aa_length": 469,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": 2964,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000931106.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601165.1",
"strand": false,
"transcript": "ENST00000931106.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000943004.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613063.1",
"strand": false,
"transcript": "ENST00000943004.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 469,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 1800,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000943008.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Gly454Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613067.1",
"strand": false,
"transcript": "ENST00000943008.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 466,
"aa_ref": "G",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000888227.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Gly451Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558286.1",
"strand": false,
"transcript": "ENST00000888227.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 466,
"aa_ref": "G",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000888230.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Gly451Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558289.1",
"strand": false,
"transcript": "ENST00000888230.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2780,
"cdna_start": 2278,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001376666.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363595.1",
"strand": false,
"transcript": "NM_001376666.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3015,
"cdna_start": 2243,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000943000.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613059.1",
"strand": false,
"transcript": "ENST00000943000.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "G",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000943010.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613069.1",
"strand": false,
"transcript": "ENST00000943010.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 460,
"aa_ref": "G",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 2275,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001376667.1",
"gene_hgnc_id": 25648,
"gene_symbol": "MINDY1",
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