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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: 18-12340219-AG-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=12340219&ref=AG&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM1",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AFG3L2",
"hgnc_id": 315,
"hgvs_c": "c.1961_1962delCTinsTC",
"hgvs_p": "p.Thr654Ile",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_006796.3",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TUBB6",
"hgnc_id": 20776,
"hgvs_c": "c.86-3830_86-3829delAGinsGA",
"hgvs_p": null,
"inheritance_mode": "Unknown",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000586691.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC107985154",
"hgnc_id": null,
"hgvs_c": "n.781+1639_781+1640delAGinsGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "XR_001753363.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1,PP2,PP3",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "18",
"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": "I",
"aa_end": null,
"aa_length": 797,
"aa_ref": "T",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 2107,
"cds_end": null,
"cds_length": 2394,
"cds_start": 1961,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006796.3",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1961_1962delCTinsTC",
"hgvs_p": "p.Thr654Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000269143.8",
"protein_coding": true,
"protein_id": "NP_006787.2",
"strand": false,
"transcript": "NM_006796.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 797,
"aa_ref": "T",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 2107,
"cds_end": null,
"cds_length": 2394,
"cds_start": 1961,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000269143.8",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1961_1962delCTinsTC",
"hgvs_p": "p.Thr654Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006796.3",
"protein_coding": true,
"protein_id": "ENSP00000269143.2",
"strand": false,
"transcript": "ENST00000269143.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 866,
"aa_ref": "T",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3410,
"cdna_start": 2357,
"cds_end": null,
"cds_length": 2601,
"cds_start": 2168,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889396.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.2168_2169delCTinsTC",
"hgvs_p": "p.Thr723Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559455.1",
"strand": false,
"transcript": "ENST00000889396.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 845,
"aa_ref": "T",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3176,
"cdna_start": 2132,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2105,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964861.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.2105_2106delCTinsTC",
"hgvs_p": "p.Thr702Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634920.1",
"strand": false,
"transcript": "ENST00000964861.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 840,
"aa_ref": "T",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2090,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889412.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.2090_2091delCTinsTC",
"hgvs_p": "p.Thr697Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559471.1",
"strand": false,
"transcript": "ENST00000889412.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 829,
"aa_ref": "T",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3247,
"cdna_start": 2194,
"cds_end": null,
"cds_length": 2490,
"cds_start": 2057,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964858.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.2057_2058delCTinsTC",
"hgvs_p": "p.Thr686Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634917.1",
"strand": false,
"transcript": "ENST00000964858.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 820,
"aa_ref": "T",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 2463,
"cds_start": 2030,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889406.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.2030_2031delCTinsTC",
"hgvs_p": "p.Thr677Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559465.1",
"strand": false,
"transcript": "ENST00000889406.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 804,
"aa_ref": "T",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1982,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889408.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1982_1983delCTinsTC",
"hgvs_p": "p.Thr661Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559467.1",
"strand": false,
"transcript": "ENST00000889408.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 797,
"aa_ref": "T",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 2394,
"cds_start": 1961,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964852.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1961_1962delCTinsTC",
"hgvs_p": "p.Thr654Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634911.1",
"strand": false,
"transcript": "ENST00000964852.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 796,
"aa_ref": "T",
"aa_start": 653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": 2159,
"cds_end": null,
"cds_length": 2391,
"cds_start": 1958,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889395.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1958_1959delCTinsTC",
"hgvs_p": "p.Thr653Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559454.1",
"strand": false,
"transcript": "ENST00000889395.1",
"transcript_support_level": null
},
{
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"aa_length": 796,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 2136,
"cds_end": null,
"cds_length": 2391,
"cds_start": 1958,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918897.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1958_1959delCTinsTC",
"hgvs_p": "p.Thr653Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588956.1",
"strand": false,
"transcript": "ENST00000918897.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1955,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889407.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1955_1956delCTinsTC",
"hgvs_p": "p.Thr652Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559466.1",
"strand": false,
"transcript": "ENST00000889407.1",
"transcript_support_level": null
},
{
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"aa_length": 794,
"aa_ref": "T",
"aa_start": 651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 2130,
"cds_end": null,
"cds_length": 2385,
"cds_start": 1952,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889398.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1952_1953delCTinsTC",
"hgvs_p": "p.Thr651Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559457.1",
"strand": false,
"transcript": "ENST00000889398.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2088,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1910,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889400.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1910_1911delCTinsTC",
"hgvs_p": "p.Thr637Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559459.1",
"strand": false,
"transcript": "ENST00000889400.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 776,
"aa_ref": "T",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": 2110,
"cds_end": null,
"cds_length": 2331,
"cds_start": 1898,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918900.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1898_1899delCTinsTC",
"hgvs_p": "p.Thr633Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588959.1",
"strand": false,
"transcript": "ENST00000918900.1",
"transcript_support_level": null
},
{
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"aa_length": 776,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 3156,
"cdna_start": 2104,
"cds_end": null,
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"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964853.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1898_1899delCTinsTC",
"hgvs_p": "p.Thr633Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634912.1",
"strand": false,
"transcript": "ENST00000964853.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_length": 2954,
"cdna_start": 1914,
"cds_end": null,
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"cds_start": 1886,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000691179.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1886_1887delCTinsTC",
"hgvs_p": "p.Thr629Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509010.1",
"strand": false,
"transcript": "ENST00000691179.1",
"transcript_support_level": null
},
{
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"aa_length": 771,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 2132,
"cds_end": null,
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"cds_start": 1883,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889392.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1883_1884delCTinsTC",
"hgvs_p": "p.Thr628Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559451.1",
"strand": false,
"transcript": "ENST00000889392.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 770,
"aa_ref": "T",
"aa_start": 627,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 2044,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1880,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889409.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1880_1881delCTinsTC",
"hgvs_p": "p.Thr627Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559468.1",
"strand": false,
"transcript": "ENST00000889409.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 770,
"aa_ref": "T",
"aa_start": 627,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2971,
"cdna_start": 1926,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1880,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
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