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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: 10-3165440-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=3165440&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PITRM1",
"hgnc_id": 17663,
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001242307.2",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PITRM1-AS1",
"hgnc_id": 44675,
"hgvs_c": "n.460+1155A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000598280.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 299025,
"alphamissense_prediction": null,
"alphamissense_score": 0.3243,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "10",
"clinvar_classification": "Benign",
"clinvar_disease": "PITRM1-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.003263801336288452,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "F",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 516,
"cds_end": null,
"cds_length": 3114,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_014889.4",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000224949.9",
"protein_coding": true,
"protein_id": "NP_055704.2",
"strand": false,
"transcript": "NM_014889.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "F",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 516,
"cds_end": null,
"cds_length": 3114,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000224949.9",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014889.4",
"protein_coding": true,
"protein_id": "ENSP00000224949.4",
"strand": false,
"transcript": "ENST00000224949.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1038,
"aa_ref": "F",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3487,
"cdna_start": 575,
"cds_end": null,
"cds_length": 3117,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000380989.6",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370377.2",
"strand": false,
"transcript": "ENST00000380989.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1038,
"aa_ref": "F",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3430,
"cdna_start": 516,
"cds_end": null,
"cds_length": 3117,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001242307.2",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229236.1",
"strand": false,
"transcript": "NM_001242307.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1033,
"aa_ref": "F",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": 520,
"cds_end": null,
"cds_length": 3102,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000851395.1",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521454.1",
"strand": false,
"transcript": "ENST00000851395.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "F",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3402,
"cdna_start": 470,
"cds_end": null,
"cds_length": 3099,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960314.1",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.464T>C",
"hgvs_p": "p.Phe155Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630373.1",
"strand": false,
"transcript": "ENST00000960314.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "F",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3897,
"cdna_start": 985,
"cds_end": null,
"cds_length": 3090,
"cds_start": 482,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001347729.1",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.482T>C",
"hgvs_p": "p.Phe161Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334658.1",
"strand": false,
"transcript": "NM_001347729.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 996,
"aa_ref": "F",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 524,
"cds_end": null,
"cds_length": 2991,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000678441.1",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504785.1",
"strand": false,
"transcript": "ENST00000678441.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 995,
"aa_ref": "F",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3307,
"cdna_start": 540,
"cds_end": null,
"cds_length": 2988,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000678370.1",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504540.1",
"strand": false,
"transcript": "ENST00000678370.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 993,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 516,
"cds_end": null,
"cds_length": 2982,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960312.1",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630371.1",
"strand": false,
"transcript": "ENST00000960312.1",
"transcript_support_level": null
},
{
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"aa_length": 992,
"aa_ref": "F",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": 513,
"cds_end": null,
"cds_length": 2979,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 5,
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"feature": "ENST00000676953.1",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504468.1",
"strand": false,
"transcript": "ENST00000676953.1",
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},
{
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"aa_length": 971,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 516,
"cds_end": null,
"cds_length": 2916,
"cds_start": 506,
"consequences": [
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],
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"feature": "NM_001347725.2",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001334654.1",
"strand": false,
"transcript": "NM_001347725.2",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 3242,
"cdna_start": 541,
"cds_end": null,
"cds_length": 2916,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000678436.1",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503187.1",
"strand": false,
"transcript": "ENST00000678436.1",
"transcript_support_level": null
},
{
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"aa_ref": "F",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3699,
"cdna_start": 985,
"cds_end": null,
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"cds_start": 482,
"consequences": [
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],
"exon_count": 25,
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"feature": "NM_001347730.1",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.482T>C",
"hgvs_p": "p.Phe161Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334659.1",
"strand": false,
"transcript": "NM_001347730.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 939,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 472,
"cds_end": null,
"cds_length": 2820,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001242309.1",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.410T>C",
"hgvs_p": "p.Phe137Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229238.1",
"strand": false,
"transcript": "NM_001242309.1",
"transcript_support_level": null
},
{
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"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 472,
"cds_end": null,
"cds_length": 2820,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000451104.6",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.410T>C",
"hgvs_p": "p.Phe137Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000401201.2",
"strand": false,
"transcript": "ENST00000451104.6",
"transcript_support_level": 2
},
{
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"cds_start": 506,
"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000430362.2",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
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"protein_coding": true,
"protein_id": "ENSP00000391526.2",
"strand": false,
"transcript": "ENST00000430362.2",
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},
{
"aa_alt": "S",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
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"feature": "ENST00000678663.1",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000504725.1",
"strand": false,
"transcript": "ENST00000678663.1",
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},
{
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"aa_ref": "F",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 516,
"cds_end": null,
"cds_length": 1920,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047424445.1",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280401.1",
"strand": false,
"transcript": "XM_047424445.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 636,
"aa_ref": "F",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 516,
"cds_end": null,
"cds_length": 1911,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047424446.1",
"gene_hgnc_id": 17663,
"gene_symbol": "PITRM1",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Phe169Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280402.1",
"strand": false,
"transcript": "XM_047424446.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 1022,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
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