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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: 19-8445104-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8445104&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HNRNPM",
"hgnc_id": 5046,
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_005968.5",
"verdict": "Benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000279827",
"hgnc_id": null,
"hgvs_c": "n.494G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000623944.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.0555,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.011064261198043823,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 730,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 130,
"cds_end": null,
"cds_length": 2193,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_005968.5",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000325495.9",
"protein_coding": true,
"protein_id": "NP_005959.2",
"strand": true,
"transcript": "NM_005968.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 730,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 130,
"cds_end": null,
"cds_length": 2193,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000325495.9",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005968.5",
"protein_coding": true,
"protein_id": "ENSP00000325376.2",
"strand": true,
"transcript": "ENST00000325495.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 691,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": 338,
"cds_end": null,
"cds_length": 2076,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000348943.7",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000325732.2",
"strand": true,
"transcript": "ENST00000348943.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2437,
"cdna_start": 118,
"cds_end": null,
"cds_length": 2169,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000940928.1",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610987.1",
"strand": true,
"transcript": "ENST00000940928.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 707,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 130,
"cds_end": null,
"cds_length": 2124,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000903831.1",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573890.1",
"strand": true,
"transcript": "ENST00000903831.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 691,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 130,
"cds_end": null,
"cds_length": 2076,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_031203.4",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_112480.2",
"strand": true,
"transcript": "NM_031203.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 653,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 119,
"cds_end": null,
"cds_length": 1962,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000903832.1",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573891.1",
"strand": true,
"transcript": "ENST00000903832.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 526,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1849,
"cdna_start": 114,
"cds_end": null,
"cds_length": 1581,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000938811.1",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608870.1",
"strand": true,
"transcript": "ENST00000938811.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 477,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1714,
"cdna_start": 126,
"cds_end": null,
"cds_length": 1434,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000938810.1",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608869.1",
"strand": true,
"transcript": "ENST00000938810.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 459,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 130,
"cds_end": null,
"cds_length": 1380,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000938809.1",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608868.1",
"strand": true,
"transcript": "ENST00000938809.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 356,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 113,
"cds_end": null,
"cds_length": 1071,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000594907.5",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472789.1",
"strand": true,
"transcript": "ENST00000594907.5",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 351,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1086,
"cdna_start": 134,
"cds_end": null,
"cds_length": 1058,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000600092.5",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470932.1",
"strand": true,
"transcript": "ENST00000600092.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 274,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 832,
"cdna_start": 111,
"cds_end": null,
"cds_length": 827,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000601645.5",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471339.1",
"strand": true,
"transcript": "ENST00000601645.5",
"transcript_support_level": 3
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 218,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 664,
"cdna_start": 112,
"cds_end": null,
"cds_length": 658,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000596984.5",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470017.1",
"strand": true,
"transcript": "ENST00000596984.5",
"transcript_support_level": 5
},
{
"aa_alt": "A",
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"aa_length": 148,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 730,
"cdna_start": 129,
"cds_end": null,
"cds_length": 447,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000938808.1",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608867.1",
"strand": true,
"transcript": "ENST00000938808.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 715,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2432,
"cdna_start": 130,
"cds_end": null,
"cds_length": 2148,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005272478.4",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005272535.1",
"strand": true,
"transcript": "XM_005272478.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 712,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": 130,
"cds_end": null,
"cds_length": 2139,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005272479.3",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005272536.1",
"strand": true,
"transcript": "XM_005272479.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 130,
"cds_end": null,
"cds_length": 2094,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017026823.2",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882312.1",
"strand": true,
"transcript": "XM_017026823.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 130,
"cds_end": null,
"cds_length": 2031,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005272480.3",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005272537.1",
"strand": true,
"transcript": "XM_005272480.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 673,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 130,
"cds_end": null,
"cds_length": 2022,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017026824.2",
"gene_hgnc_id": 5046,
"gene_symbol": "HNRNPM",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.Pro36Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882313.1",
"strand": true,
"transcript": "XM_017026824.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 658,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 130,
"cds_end": null,
"cds_length": 1977,
"cds_start": 106,
"consequences": [
"missense_variant"
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