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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: 13-113822049-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113822049&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 15,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "GAS6",
"hgnc_id": 4168,
"hgvs_c": "c.1791C>T",
"hgvs_p": "p.Ser597Ser",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -15,
"transcript": "NM_000820.4",
"verdict": "Benign"
},
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GAS6-AS1",
"hgnc_id": 39826,
"hgvs_c": "n.82+6358G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -14,
"transcript": "NR_044995.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1,BS2",
"acmg_score": -15,
"allele_count_reference_population": 1104,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"chr": "13",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7400000095367432,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 678,
"aa_ref": "S",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2508,
"cdna_start": 1947,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1791,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_000820.4",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1791C>T",
"hgvs_p": "p.Ser597Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000327773.7",
"protein_coding": true,
"protein_id": "NP_000811.1",
"strand": false,
"transcript": "NM_000820.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 678,
"aa_ref": "S",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2508,
"cdna_start": 1947,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1791,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000327773.7",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1791C>T",
"hgvs_p": "p.Ser597Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000820.4",
"protein_coding": true,
"protein_id": "ENSP00000331831.6",
"strand": false,
"transcript": "ENST00000327773.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 791,
"aa_ref": "S",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 2286,
"cds_end": null,
"cds_length": 2376,
"cds_start": 2130,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000881729.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.2130C>T",
"hgvs_p": "p.Ser710Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551788.1",
"strand": false,
"transcript": "ENST00000881729.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 742,
"aa_ref": "S",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 2100,
"cds_end": null,
"cds_length": 2229,
"cds_start": 1983,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000881736.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1983C>T",
"hgvs_p": "p.Ser661Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551795.1",
"strand": false,
"transcript": "ENST00000881736.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 740,
"aa_ref": "S",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 2223,
"cds_start": 1977,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000952114.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1977C>T",
"hgvs_p": "p.Ser659Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622173.1",
"strand": false,
"transcript": "ENST00000952114.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 734,
"aa_ref": "S",
"aa_start": 653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 2076,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1959,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000881740.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1959C>T",
"hgvs_p": "p.Ser653Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551799.1",
"strand": false,
"transcript": "ENST00000881740.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 722,
"aa_ref": "S",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2658,
"cdna_start": 2097,
"cds_end": null,
"cds_length": 2169,
"cds_start": 1923,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000881726.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1923C>T",
"hgvs_p": "p.Ser641Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551785.1",
"strand": false,
"transcript": "ENST00000881726.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 721,
"aa_ref": "S",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1920,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000881723.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1920C>T",
"hgvs_p": "p.Ser640Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551782.1",
"strand": false,
"transcript": "ENST00000881723.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 720,
"aa_ref": "S",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2593,
"cdna_start": 2037,
"cds_end": null,
"cds_length": 2163,
"cds_start": 1917,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000881737.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1917C>T",
"hgvs_p": "p.Ser639Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551796.1",
"strand": false,
"transcript": "ENST00000881737.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 720,
"aa_ref": "S",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2623,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 2163,
"cds_start": 1917,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000952108.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1917C>T",
"hgvs_p": "p.Ser639Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622167.1",
"strand": false,
"transcript": "ENST00000952108.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 719,
"aa_ref": "S",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2673,
"cdna_start": 2114,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1914,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000952101.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1914C>T",
"hgvs_p": "p.Ser638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622160.1",
"strand": false,
"transcript": "ENST00000952101.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 714,
"aa_ref": "S",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 2046,
"cds_end": null,
"cds_length": 2145,
"cds_start": 1899,
"consequences": [
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],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000952109.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1899C>T",
"hgvs_p": "p.Ser633Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622168.1",
"strand": false,
"transcript": "ENST00000952109.1",
"transcript_support_level": null
},
{
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"aa_length": 696,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1845,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000881720.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1845C>T",
"hgvs_p": "p.Ser615Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551779.1",
"strand": false,
"transcript": "ENST00000881720.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 694,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2571,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 2085,
"cds_start": 1839,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000881727.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1839C>T",
"hgvs_p": "p.Ser613Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551786.1",
"strand": false,
"transcript": "ENST00000881727.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "S",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 1935,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000952113.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1821C>T",
"hgvs_p": "p.Ser607Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622172.1",
"strand": false,
"transcript": "ENST00000952113.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 687,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 1947,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1791,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000881731.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1791C>T",
"hgvs_p": "p.Ser597Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551790.1",
"strand": false,
"transcript": "ENST00000881731.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2457,
"cdna_start": 1905,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1809,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000881739.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1809C>T",
"hgvs_p": "p.Ser603Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551798.1",
"strand": false,
"transcript": "ENST00000881739.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "S",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 2537,
"cdna_start": 1976,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1785,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000881721.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1785C>T",
"hgvs_p": "p.Ser595Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551780.1",
"strand": false,
"transcript": "ENST00000881721.1",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1903,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1737,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000881728.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1737C>T",
"hgvs_p": "p.Ser579Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551787.1",
"strand": false,
"transcript": "ENST00000881728.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 655,
"aa_ref": "S",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 1874,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1722,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000952110.1",
"gene_hgnc_id": 4168,
"gene_symbol": "GAS6",
"hgvs_c": "c.1722C>T",
"hgvs_p": "p.Ser574Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622169.1",
"strand": false,
"transcript": "ENST00000952110.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 648,
"aa_ref": "S",
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"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
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"ref": "G",
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"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
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"transcript": "NM_000820.4"
}
]
}