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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: 13-50956394-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=50956394&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 50956394,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000336617.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Ala287Pro",
"transcript": "NM_024570.4",
"protein_id": "NP_078846.2",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 312,
"cds_start": 859,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": "ENST00000336617.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Ala287Pro",
"transcript": "ENST00000336617.8",
"protein_id": "ENSP00000337623.2",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 312,
"cds_start": 859,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": "NM_024570.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Ala287Pro",
"transcript": "ENST00000646960.1",
"protein_id": "ENSP00000496481.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 355,
"cds_start": 859,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Ala257Pro",
"transcript": "ENST00000643159.1",
"protein_id": "ENSP00000495587.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 324,
"cds_start": 769,
"cds_end": null,
"cds_length": 975,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Ala287Pro",
"transcript": "ENST00000642721.1",
"protein_id": "ENSP00000495650.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 319,
"cds_start": 859,
"cds_end": null,
"cds_length": 960,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 1033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.880G>C",
"hgvs_p": "p.Ala294Pro",
"transcript": "ENST00000713971.1",
"protein_id": "ENSP00000519263.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 319,
"cds_start": 880,
"cds_end": null,
"cds_length": 960,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "ENST00000645188.1",
"protein_id": "ENSP00000496224.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 309,
"cds_start": 850,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.823G>C",
"hgvs_p": "p.Ala275Pro",
"transcript": "ENST00000643774.1",
"protein_id": "ENSP00000495482.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 300,
"cds_start": 823,
"cds_end": null,
"cds_length": 903,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Ala257Pro",
"transcript": "ENST00000611510.5",
"protein_id": "ENSP00000481236.3",
"transcript_support_level": 5,
"aa_start": 257,
"aa_end": null,
"aa_length": 282,
"cds_start": 769,
"cds_end": null,
"cds_length": 849,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Ala257Pro",
"transcript": "ENST00000637648.3",
"protein_id": "ENSP00000490077.3",
"transcript_support_level": 3,
"aa_start": 257,
"aa_end": null,
"aa_length": 282,
"cds_start": 769,
"cds_end": null,
"cds_length": 849,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Ala257Pro",
"transcript": "ENST00000646709.1",
"protein_id": "ENSP00000495278.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 282,
"cds_start": 769,
"cds_end": null,
"cds_length": 849,
"cdna_start": 3653,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Ala257Pro",
"transcript": "ENST00000713976.1",
"protein_id": "ENSP00000519267.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 282,
"cds_start": 769,
"cds_end": null,
"cds_length": 849,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.742G>C",
"hgvs_p": "p.Ala248Pro",
"transcript": "ENST00000642995.1",
"protein_id": "ENSP00000493499.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 273,
"cds_start": 742,
"cds_end": null,
"cds_length": 822,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.487G>C",
"hgvs_p": "p.Ala163Pro",
"transcript": "ENST00000713969.1",
"protein_id": "ENSP00000519261.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 188,
"cds_start": 487,
"cds_end": null,
"cds_length": 567,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Ala142Pro",
"transcript": "ENST00000643405.1",
"protein_id": "ENSP00000493777.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 162,
"cds_start": 424,
"cds_end": null,
"cds_length": 490,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.307G>C",
"hgvs_p": "p.Ala103Pro",
"transcript": "ENST00000644034.1",
"protein_id": "ENSP00000495456.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 128,
"cds_start": 307,
"cds_end": null,
"cds_length": 387,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.196G>C",
"hgvs_p": "p.Ala66Pro",
"transcript": "ENST00000645912.1",
"protein_id": "ENSP00000494091.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 91,
"cds_start": 196,
"cds_end": null,
"cds_length": 276,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Ala281Pro",
"transcript": "XM_006719867.5",
"protein_id": "XP_006719930.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 306,
"cds_start": 841,
"cds_end": null,
"cds_length": 921,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Ala257Pro",
"transcript": "XM_047430614.1",
"protein_id": "XP_047286570.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 282,
"cds_start": 769,
"cds_end": null,
"cds_length": 849,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Ala257Pro",
"transcript": "XM_047430615.1",
"protein_id": "XP_047286571.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 282,
"cds_start": 769,
"cds_end": null,
"cds_length": 849,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Ala257Pro",
"transcript": "XM_047430616.1",
"protein_id": "XP_047286572.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 282,
"cds_start": 769,
"cds_end": null,
"cds_length": 849,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 1185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.451G>C",
"hgvs_p": "p.Ala151Pro",
"transcript": "XM_047430618.1",
"protein_id": "XP_047286574.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 176,
"cds_start": 451,
"cds_end": null,
"cds_length": 531,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000336617.8",
"gene_symbol": "RNASEH2B",
"hgnc_id": 25671,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Ala287Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}