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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: 11-67405146-TCG-ACA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67405146&ref=TCG&alt=ACA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TBC1D10C",
"hgnc_id": 24702,
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001369498.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "PPP1CA",
"hgnc_id": 9281,
"hgvs_c": "n.396-3949_396-3947delCGAinsTGT",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000542876.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"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": 446,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1796,
"cdna_start": 334,
"cds_end": null,
"cds_length": 1341,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369496.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000542590.2",
"protein_coding": true,
"protein_id": "NP_001356425.1",
"strand": true,
"transcript": "NM_001369496.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1796,
"cdna_start": 334,
"cds_end": null,
"cds_length": 1341,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000542590.2",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001369496.1",
"protein_coding": true,
"protein_id": "ENSP00000443654.1",
"strand": true,
"transcript": "ENST00000542590.2",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 454,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1820,
"cdna_start": 334,
"cds_end": null,
"cds_length": 1365,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369498.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356427.1",
"strand": true,
"transcript": "NM_001369498.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 454,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1941,
"cdna_start": 456,
"cds_end": null,
"cds_length": 1365,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946012.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616071.1",
"strand": true,
"transcript": "ENST00000946012.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1699,
"cdna_start": 237,
"cds_end": null,
"cds_length": 1341,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369497.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356426.1",
"strand": true,
"transcript": "NM_001369497.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 254,
"cds_end": null,
"cds_length": 1341,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_198517.4",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_940919.1",
"strand": true,
"transcript": "NM_198517.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1848,
"cdna_start": 385,
"cds_end": null,
"cds_length": 1341,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868931.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538990.1",
"strand": true,
"transcript": "ENST00000868931.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": 355,
"cds_end": null,
"cds_length": 1341,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868932.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538991.1",
"strand": true,
"transcript": "ENST00000868932.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 363,
"cds_end": null,
"cds_length": 1341,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868933.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538992.1",
"strand": true,
"transcript": "ENST00000868933.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 273,
"cds_end": null,
"cds_length": 1341,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868934.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538993.1",
"strand": true,
"transcript": "ENST00000868934.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 782,
"cds_end": null,
"cds_length": 1341,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946007.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616066.1",
"strand": true,
"transcript": "ENST00000946007.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 446,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 322,
"cds_end": null,
"cds_length": 1341,
"cds_start": 214,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946009.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616068.1",
"strand": true,
"transcript": "ENST00000946009.1",
"transcript_support_level": null
},
{
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"aa_length": 445,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 326,
"cds_end": null,
"cds_length": 1338,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946008.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616067.1",
"strand": true,
"transcript": "ENST00000946008.1",
"transcript_support_level": null
},
{
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"aa_length": 438,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1763,
"cdna_start": 326,
"cds_end": null,
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"cds_start": 214,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000868935.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538994.1",
"strand": true,
"transcript": "ENST00000868935.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 424,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 325,
"cds_end": null,
"cds_length": 1275,
"cds_start": 214,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946010.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616069.1",
"strand": true,
"transcript": "ENST00000946010.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 424,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1875,
"cdna_start": 479,
"cds_end": null,
"cds_length": 1275,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946011.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616070.1",
"strand": true,
"transcript": "ENST00000946011.1",
"transcript_support_level": null
},
{
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"aa_length": 410,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1604,
"cdna_start": 250,
"cds_end": null,
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"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868936.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000538995.1",
"strand": true,
"transcript": "ENST00000868936.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 310,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1523,
"cdna_start": 254,
"cds_end": null,
"cds_length": 933,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256508.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243437.1",
"strand": true,
"transcript": "NM_001256508.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 310,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": 230,
"cds_end": null,
"cds_length": 933,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000312390.9",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000310193.6",
"strand": true,
"transcript": "ENST00000312390.9",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 310,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1520,
"cdna_start": 252,
"cds_end": null,
"cds_length": 933,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526387.5",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.214_216delTCGinsACA",
"hgvs_p": "p.Ser72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435543.1",
"strand": true,
"transcript": "ENST00000526387.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 273,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
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