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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: 13-50943339-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=50943339&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6",
"BS2_Supporting"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RNASEH2B",
"hgnc_id": 25671,
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Asn152Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_024570.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BS2_Supporting",
"acmg_score": -6,
"allele_count_reference_population": 1444,
"alphamissense_prediction": null,
"alphamissense_score": 0.0644,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "13",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Aicardi-Goutieres syndrome 2,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.010262280702590942,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 312,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1513,
"cdna_start": 741,
"cds_end": null,
"cds_length": 939,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_024570.4",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Asn152Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336617.8",
"protein_coding": true,
"protein_id": "NP_078846.2",
"strand": true,
"transcript": "NM_024570.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 312,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1513,
"cdna_start": 741,
"cds_end": null,
"cds_length": 939,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000336617.8",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Asn152Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024570.4",
"protein_coding": true,
"protein_id": "ENSP00000337623.2",
"strand": true,
"transcript": "ENST00000336617.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 355,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1068,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000646960.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Asn152Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496481.1",
"strand": true,
"transcript": "ENST00000646960.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 324,
"aa_ref": "N",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2155,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 975,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000643159.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Asn122Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495587.1",
"strand": true,
"transcript": "ENST00000643159.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 319,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1033,
"cdna_start": 528,
"cds_end": null,
"cds_length": 960,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000642721.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Asn152Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495650.1",
"strand": true,
"transcript": "ENST00000642721.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 319,
"aa_ref": "N",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1278,
"cdna_start": 508,
"cds_end": null,
"cds_length": 960,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000713971.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.476A>G",
"hgvs_p": "p.Asn159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519263.1",
"strand": true,
"transcript": "ENST00000713971.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 311,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": 764,
"cds_end": null,
"cds_length": 936,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000951840.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.452A>G",
"hgvs_p": "p.Asn151Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621899.1",
"strand": true,
"transcript": "ENST00000951840.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 311,
"aa_ref": "N",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1274,
"cdna_start": 758,
"cds_end": null,
"cds_length": 936,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000951841.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.452A>G",
"hgvs_p": "p.Asn151Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621900.1",
"strand": true,
"transcript": "ENST00000951841.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 309,
"aa_ref": "N",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1525,
"cdna_start": 755,
"cds_end": null,
"cds_length": 930,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000645188.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Asn149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496224.1",
"strand": true,
"transcript": "ENST00000645188.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 309,
"aa_ref": "N",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 975,
"cdna_start": 462,
"cds_end": null,
"cds_length": 930,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000913790.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Asn149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583849.1",
"strand": true,
"transcript": "ENST00000913790.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 308,
"aa_ref": "N",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1215,
"cdna_start": 449,
"cds_end": null,
"cds_length": 927,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000951842.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Asn148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621901.1",
"strand": true,
"transcript": "ENST00000951842.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "N",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1837,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 903,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000643774.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Asn140Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495482.1",
"strand": true,
"transcript": "ENST00000643774.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1366,
"cdna_start": 540,
"cds_end": null,
"cds_length": 882,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000643682.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Asn152Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493655.1",
"strand": true,
"transcript": "ENST00000643682.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 289,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3410,
"cdna_start": 525,
"cds_end": null,
"cds_length": 870,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000616907.2",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Asn152Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482701.2",
"strand": true,
"transcript": "ENST00000616907.2",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 289,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 614,
"cds_end": null,
"cds_length": 870,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000645955.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Asn152Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495755.1",
"strand": true,
"transcript": "ENST00000645955.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 282,
"aa_ref": "N",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1257,
"cdna_start": 675,
"cds_end": null,
"cds_length": 849,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000611510.5",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Asn122Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481236.3",
"strand": true,
"transcript": "ENST00000611510.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 282,
"aa_ref": "N",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 878,
"cds_end": null,
"cds_length": 849,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637648.3",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Asn122Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490077.3",
"strand": true,
"transcript": "ENST00000637648.3",
"transcript_support_level": 3
},
{
"aa_alt": "S",
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"aa_length": 282,
"aa_ref": "N",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4003,
"cdna_start": 3249,
"cds_end": null,
"cds_length": 849,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000646709.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Asn122Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495278.1",
"strand": true,
"transcript": "ENST00000646709.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 282,
"aa_ref": "N",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1088,
"cdna_start": 575,
"cds_end": null,
"cds_length": 849,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000713976.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.365A>G",
"hgvs_p": "p.Asn122Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519267.1",
"strand": true,
"transcript": "ENST00000713976.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 273,
"aa_ref": "N",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 922,
"cdna_start": 345,
"cds_end": null,
"cds_length": 822,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000642995.1",
"gene_hgnc_id": 25671,
"gene_symbol": "RNASEH2B",
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Asn113Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493499.1",
"strand": true,
"transcript": "ENST00000642995.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 272,
"aa_ref": "N",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1928,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 819,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000645370.2",
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