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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: 21-39406098-CA-GG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=39406098&ref=CA&alt=GG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "LCA5L",
"hgnc_id": 1255,
"hgvs_c": "c.1796_1797delTGinsCC",
"hgvs_p": "p.Met599Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_152505.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "GET1-SH3BGR",
"hgnc_id": 54635,
"hgvs_c": "c.336+14262_336+14263delCAinsGG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001317744.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "GET1",
"hgnc_id": 12790,
"hgvs_c": "c.*114_*115delCAinsGG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000415847.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "M",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2533,
"cdna_start": 2163,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152505.4",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1796_1797delTGinsCC",
"hgvs_p": "p.Met599Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000288350.8",
"protein_coding": true,
"protein_id": "NP_689718.1",
"strand": false,
"transcript": "NM_152505.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "M",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2533,
"cdna_start": 2163,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000288350.8",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1796_1797delTGinsCC",
"hgvs_p": "p.Met599Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152505.4",
"protein_coding": true,
"protein_id": "ENSP00000288350.3",
"strand": false,
"transcript": "ENST00000288350.8",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "M",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2564,
"cdna_start": 2326,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358268.6",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1796_1797delTGinsCC",
"hgvs_p": "p.Met599Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351008.2",
"strand": false,
"transcript": "ENST00000358268.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "M",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 1826,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380671.6",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1796_1797delTGinsCC",
"hgvs_p": "p.Met599Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370046.2",
"strand": false,
"transcript": "ENST00000380671.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 273,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1328,
"cdna_start": null,
"cds_end": null,
"cds_length": 822,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647779.1",
"gene_hgnc_id": 54635,
"gene_symbol": "GET1-SH3BGR",
"hgvs_c": "c.336+14262_336+14263delCAinsGG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497977.1",
"strand": true,
"transcript": "ENST00000647779.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 719,
"aa_ref": "M",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1943,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951471.1",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1943_1944delTGinsCC",
"hgvs_p": "p.Met648Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621530.1",
"strand": false,
"transcript": "ENST00000951471.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "M",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 2093,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384285.1",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1796_1797delTGinsCC",
"hgvs_p": "p.Met599Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371214.1",
"strand": false,
"transcript": "NM_001384285.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "M",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": 2096,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384286.1",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1796_1797delTGinsCC",
"hgvs_p": "p.Met599Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371215.1",
"strand": false,
"transcript": "NM_001384286.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "M",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2435,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384287.1",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1796_1797delTGinsCC",
"hgvs_p": "p.Met599Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371216.1",
"strand": false,
"transcript": "NM_001384287.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "M",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": 2438,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384288.1",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1796_1797delTGinsCC",
"hgvs_p": "p.Met599Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371217.1",
"strand": false,
"transcript": "NM_001384288.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "M",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 2279,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384289.1",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1796_1797delTGinsCC",
"hgvs_p": "p.Met599Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371218.1",
"strand": false,
"transcript": "NM_001384289.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "M",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": 2371,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384291.1",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1796_1797delTGinsCC",
"hgvs_p": "p.Met599Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371220.1",
"strand": false,
"transcript": "NM_001384291.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 624,
"aa_ref": "M",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2958,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1658,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855513.1",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1658_1659delTGinsCC",
"hgvs_p": "p.Met553Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525572.1",
"strand": false,
"transcript": "ENST00000855513.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 540,
"aa_ref": "M",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 1610,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384292.1",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1406_1407delTGinsCC",
"hgvs_p": "p.Met469Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371221.1",
"strand": false,
"transcript": "NM_001384292.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 540,
"aa_ref": "M",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 1831,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384293.1",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1406_1407delTGinsCC",
"hgvs_p": "p.Met469Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371222.1",
"strand": false,
"transcript": "NM_001384293.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 540,
"aa_ref": "M",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1966,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1406,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384294.1",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1406_1407delTGinsCC",
"hgvs_p": "p.Met469Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371223.1",
"strand": false,
"transcript": "NM_001384294.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 540,
"aa_ref": "M",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": 1677,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1406,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384295.1",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1406_1407delTGinsCC",
"hgvs_p": "p.Met469Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371224.1",
"strand": false,
"transcript": "NM_001384295.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 540,
"aa_ref": "M",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2134,
"cdna_start": 1764,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384296.1",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1406_1407delTGinsCC",
"hgvs_p": "p.Met469Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371225.1",
"strand": false,
"transcript": "NM_001384296.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 719,
"aa_ref": "M",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 2768,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1943,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011529458.2",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1943_1944delTGinsCC",
"hgvs_p": "p.Met648Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527760.1",
"strand": false,
"transcript": "XM_011529458.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 719,
"aa_ref": "M",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2680,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1943,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011529459.2",
"gene_hgnc_id": 1255,
"gene_symbol": "LCA5L",
"hgvs_c": "c.1943_1944delTGinsCC",
"hgvs_p": "p.Met648Thr",
"intron_rank": null,
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