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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: 22-41586091-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41586091&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PMM1",
"hgnc_id": 9114,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Gly64Arg",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_002676.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 4,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.7908,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.53,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.919934868812561,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 262,
"aa_ref": "G",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1242,
"cdna_start": 225,
"cds_end": null,
"cds_length": 789,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_002676.3",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Gly64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216259.8",
"protein_coding": true,
"protein_id": "NP_002667.2",
"strand": false,
"transcript": "NM_002676.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 262,
"aa_ref": "G",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1242,
"cdna_start": 225,
"cds_end": null,
"cds_length": 789,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000216259.8",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Gly64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002676.3",
"protein_coding": true,
"protein_id": "ENSP00000216259.7",
"strand": false,
"transcript": "ENST00000216259.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 340,
"aa_ref": "G",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1451,
"cdna_start": 440,
"cds_end": null,
"cds_length": 1023,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000949539.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Gly142Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619598.1",
"strand": false,
"transcript": "ENST00000949539.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 305,
"aa_ref": "G",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1367,
"cdna_start": 350,
"cds_end": null,
"cds_length": 918,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940470.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.319G>C",
"hgvs_p": "p.Gly107Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610529.1",
"strand": false,
"transcript": "ENST00000940470.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 277,
"aa_ref": "G",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1271,
"cdna_start": 212,
"cds_end": null,
"cds_length": 834,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000949538.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Gly64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619597.1",
"strand": false,
"transcript": "ENST00000949538.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 271,
"aa_ref": "G",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1264,
"cdna_start": 225,
"cds_end": null,
"cds_length": 816,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000949537.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Gly64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619596.1",
"strand": false,
"transcript": "ENST00000949537.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 269,
"aa_ref": "G",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1228,
"cdna_start": 196,
"cds_end": null,
"cds_length": 810,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896620.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Gly64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566679.1",
"strand": false,
"transcript": "ENST00000896620.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 262,
"aa_ref": "G",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1788,
"cdna_start": 771,
"cds_end": null,
"cds_length": 789,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000949536.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Gly64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619595.1",
"strand": false,
"transcript": "ENST00000949536.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1277,
"cdna_start": 259,
"cds_end": null,
"cds_length": 786,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000940468.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Gly64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610527.1",
"strand": false,
"transcript": "ENST00000940468.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 260,
"aa_ref": "G",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1255,
"cdna_start": 241,
"cds_end": null,
"cds_length": 783,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000940469.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Gly64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610528.1",
"strand": false,
"transcript": "ENST00000940469.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 259,
"aa_ref": "G",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1233,
"cdna_start": 223,
"cds_end": null,
"cds_length": 780,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896615.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Gly64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566674.1",
"strand": false,
"transcript": "ENST00000896615.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 251,
"aa_ref": "G",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1202,
"cdna_start": 191,
"cds_end": null,
"cds_length": 756,
"cds_start": 157,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896617.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.157G>C",
"hgvs_p": "p.Gly53Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566676.1",
"strand": false,
"transcript": "ENST00000896617.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 240,
"aa_ref": "G",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1174,
"cdna_start": 221,
"cds_end": null,
"cds_length": 723,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896616.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Gly64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566675.1",
"strand": false,
"transcript": "ENST00000896616.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 206,
"aa_ref": "G",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1056,
"cdna_start": 213,
"cds_end": null,
"cds_length": 621,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896618.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Gly64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566677.1",
"strand": false,
"transcript": "ENST00000896618.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 305,
"aa_ref": "W",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1371,
"cdna_start": 446,
"cds_end": null,
"cds_length": 918,
"cds_start": 411,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011530229.3",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.411G>C",
"hgvs_p": "p.Trp137Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528531.1",
"strand": false,
"transcript": "XM_011530229.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 267,
"aa_ref": "G",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1351,
"cdna_start": 334,
"cds_end": null,
"cds_length": 804,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011530230.3",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Gly69Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528532.1",
"strand": false,
"transcript": "XM_011530230.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 165,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1150,
"cdna_start": null,
"cds_end": null,
"cds_length": 498,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005261638.5",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.-10G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005261695.1",
"strand": false,
"transcript": "XM_005261638.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 165,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1108,
"cdna_start": null,
"cds_end": null,
"cds_length": 498,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011530232.2",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.-10G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528534.1",
"strand": false,
"transcript": "XM_011530232.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 260,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1226,
"cdna_start": null,
"cds_end": null,
"cds_length": 783,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940471.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.200-1488G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610530.1",
"strand": false,
"transcript": "ENST00000940471.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 192,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1014,
"cdna_start": null,
"cds_end": null,
"cds_length": 579,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896619.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.88-1488G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566678.1",
"strand": false,
"transcript": "ENST00000896619.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 133,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 836,
"cdna_start": null,
"cds_end": null,
"cds_length": 402,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940472.1",
"gene_hgnc_id": 9114,
"gene_symbol": "PMM1",
"hgvs_c": "c.87+3628G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610531.1",
"strand": false,
"transcript": "ENST00000940472.1",
"transcript_support_level": null
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