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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: 2-70215390-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=70215390&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TIA1",
"hgnc_id": 11802,
"hgvs_c": "c.869T>C",
"hgvs_p": "p.Met290Thr",
"inheritance_mode": "AD,Unknown,SD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_022173.4",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "C2orf42",
"hgnc_id": 26056,
"hgvs_c": "n.211+33015T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000470096.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 49,
"alphamissense_prediction": null,
"alphamissense_score": 0.1211,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Welander distal myopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12482181191444397,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 386,
"aa_ref": "M",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4634,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1161,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_022173.4",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.869T>C",
"hgvs_p": "p.Met290Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000433529.7",
"protein_coding": true,
"protein_id": "NP_071505.2",
"strand": false,
"transcript": "NM_022173.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 386,
"aa_ref": "M",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4634,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1161,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000433529.7",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.869T>C",
"hgvs_p": "p.Met290Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022173.4",
"protein_coding": true,
"protein_id": "ENSP00000401371.2",
"strand": false,
"transcript": "ENST00000433529.7",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 375,
"aa_ref": "M",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4633,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1128,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000415783.6",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.836T>C",
"hgvs_p": "p.Met279Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404023.2",
"strand": false,
"transcript": "ENST00000415783.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 418,
"aa_ref": "M",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3506,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 1257,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881363.1",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.965T>C",
"hgvs_p": "p.Met322Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551422.1",
"strand": false,
"transcript": "ENST00000881363.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 407,
"aa_ref": "M",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4721,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 1224,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881360.1",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.932T>C",
"hgvs_p": "p.Met311Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551419.1",
"strand": false,
"transcript": "ENST00000881360.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 388,
"aa_ref": "M",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4666,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1167,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881359.1",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.875T>C",
"hgvs_p": "p.Met292Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551418.1",
"strand": false,
"transcript": "ENST00000881359.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 387,
"aa_ref": "M",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2442,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 1164,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881364.1",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.875T>C",
"hgvs_p": "p.Met292Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551423.1",
"strand": false,
"transcript": "ENST00000881364.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 385,
"aa_ref": "M",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4631,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1158,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001351508.2",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.869T>C",
"hgvs_p": "p.Met290Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338437.1",
"strand": false,
"transcript": "NM_001351508.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 385,
"aa_ref": "M",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3823,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1158,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000282574.8",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.869T>C",
"hgvs_p": "p.Met290Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000282574.4",
"strand": false,
"transcript": "ENST00000282574.8",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 382,
"aa_ref": "M",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 1149,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881362.1",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.857T>C",
"hgvs_p": "p.Met286Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551421.1",
"strand": false,
"transcript": "ENST00000881362.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 377,
"aa_ref": "M",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4607,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 1134,
"cds_start": 842,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001351509.2",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.842T>C",
"hgvs_p": "p.Met281Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338438.1",
"strand": false,
"transcript": "NM_001351509.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 377,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4607,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1134,
"cds_start": 842,
"consequences": [
"missense_variant"
],
"exon_count": 12,
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"feature": "ENST00000881361.1",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.842T>C",
"hgvs_p": "p.Met281Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551420.1",
"strand": false,
"transcript": "ENST00000881361.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4601,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 1128,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_022037.4",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.836T>C",
"hgvs_p": "p.Met279Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_071320.2",
"strand": false,
"transcript": "NM_022037.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 374,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4598,
"cdna_start": 1034,
"cds_end": null,
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"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
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"feature": "NM_001351510.2",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.836T>C",
"hgvs_p": "p.Met279Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338439.1",
"strand": false,
"transcript": "NM_001351510.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 374,
"aa_ref": "M",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4731,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1125,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881358.1",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.836T>C",
"hgvs_p": "p.Met279Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551417.1",
"strand": false,
"transcript": "ENST00000881358.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 349,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4541,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1050,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001351511.1",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.758T>C",
"hgvs_p": "p.Met253Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338440.1",
"strand": false,
"transcript": "NM_001351511.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_start": 947,
"cds_end": null,
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"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001351512.1",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Met244Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338441.1",
"strand": false,
"transcript": "NM_001351512.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 338,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4508,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1017,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001351513.1",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.725T>C",
"hgvs_p": "p.Met242Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338442.1",
"strand": false,
"transcript": "NM_001351513.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4504,
"cdna_start": 937,
"cds_end": null,
"cds_length": 933,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001351514.2",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338443.1",
"strand": false,
"transcript": "NM_001351514.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 285,
"aa_ref": "M",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4720,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 858,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001351515.2",
"gene_hgnc_id": 11802,
"gene_symbol": "TIA1",
"hgvs_c": "c.566T>C",
"hgvs_p": "p.Met189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338444.1",
"strand": false,
"transcript": "NM_001351515.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 269,
"aa_ref": "M",
"aa_start": 173,
"biotype": "protein_coding",
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