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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: 16-16219555-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16219555&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "ABCC6",
"hgnc_id": 57,
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001171.6",
"verdict": "Benign"
},
{
"benign_score": 14,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000305554",
"hgnc_id": null,
"hgvs_c": "n.55G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -14,
"transcript": "ENST00000811683.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS2",
"acmg_score": -14,
"allele_count_reference_population": 1607,
"alphamissense_prediction": null,
"alphamissense_score": 0.0731,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": " 2, forme fruste, generalized, of infancy,Arterial calcification,Autosomal recessive inherited pseudoxanthoma elasticum,Pseudoxanthoma elasticum,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14915382862091064,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1503,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5140,
"cdna_start": 533,
"cds_end": null,
"cds_length": 4512,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001171.6",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000205557.12",
"protein_coding": true,
"protein_id": "NP_001162.5",
"strand": false,
"transcript": "NM_001171.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1503,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5140,
"cdna_start": 533,
"cds_end": null,
"cds_length": 4512,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000205557.12",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001171.6",
"protein_coding": true,
"protein_id": "ENSP00000205557.7",
"strand": false,
"transcript": "ENST00000205557.12",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1535,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5265,
"cdna_start": 563,
"cds_end": null,
"cds_length": 4608,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909083.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579142.1",
"strand": false,
"transcript": "ENST00000909083.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1534,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5215,
"cdna_start": 516,
"cds_end": null,
"cds_length": 4605,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909090.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579149.1",
"strand": false,
"transcript": "ENST00000909090.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1533,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5229,
"cdna_start": 532,
"cds_end": null,
"cds_length": 4602,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909087.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579146.1",
"strand": false,
"transcript": "ENST00000909087.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1515,
"aa_ref": "A",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5148,
"cdna_start": 542,
"cds_end": null,
"cds_length": 4548,
"cds_start": 509,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909096.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ala170Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579155.1",
"strand": false,
"transcript": "ENST00000909096.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1511,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5164,
"cdna_start": 535,
"cds_end": null,
"cds_length": 4536,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909085.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579144.1",
"strand": false,
"transcript": "ENST00000909085.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5102,
"cdna_start": 516,
"cds_end": null,
"cds_length": 4524,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909097.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579156.1",
"strand": false,
"transcript": "ENST00000909097.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1492,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5107,
"cdna_start": 533,
"cds_end": null,
"cds_length": 4479,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001440309.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427238.1",
"strand": false,
"transcript": "NM_001440309.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1492,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5106,
"cdna_start": 533,
"cds_end": null,
"cds_length": 4479,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909086.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579145.1",
"strand": false,
"transcript": "ENST00000909086.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1490,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": 506,
"cds_end": null,
"cds_length": 4473,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909094.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579153.1",
"strand": false,
"transcript": "ENST00000909094.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1486,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5061,
"cdna_start": 506,
"cds_end": null,
"cds_length": 4461,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909095.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579154.1",
"strand": false,
"transcript": "ENST00000909095.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1478,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5041,
"cdna_start": 510,
"cds_end": null,
"cds_length": 4437,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909091.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579150.1",
"strand": false,
"transcript": "ENST00000909091.1",
"transcript_support_level": null
},
{
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"aa_length": 1476,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5046,
"cdna_start": 521,
"cds_end": null,
"cds_length": 4431,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909089.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579148.1",
"strand": false,
"transcript": "ENST00000909089.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1472,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5023,
"cdna_start": 510,
"cds_end": null,
"cds_length": 4419,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909092.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579151.1",
"strand": false,
"transcript": "ENST00000909092.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5180,
"cdna_start": 676,
"cds_end": null,
"cds_length": 4410,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000946282.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616341.1",
"strand": false,
"transcript": "ENST00000946282.1",
"transcript_support_level": null
},
{
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"aa_length": 1469,
"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_length": 4924,
"cdna_start": 528,
"cds_end": null,
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"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000946285.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616344.1",
"strand": false,
"transcript": "ENST00000946285.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5008,
"cdna_start": 528,
"cds_end": null,
"cds_length": 4386,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909088.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579147.1",
"strand": false,
"transcript": "ENST00000909088.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1459,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4983,
"cdna_start": 510,
"cds_end": null,
"cds_length": 4380,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909093.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579152.1",
"strand": false,
"transcript": "ENST00000909093.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4962,
"cdna_start": 499,
"cds_end": null,
"cds_length": 4368,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000946284.1",
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