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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: 12-29768734-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=29768734&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TMTC1",
"hgnc_id": 24099,
"hgvs_c": "c.303-659A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001367875.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 54834,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 882,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8846,
"cdna_start": null,
"cds_end": null,
"cds_length": 2649,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001193451.2",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.303-659A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000539277.6",
"protein_coding": true,
"protein_id": "NP_001180380.1",
"strand": false,
"transcript": "NM_001193451.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 882,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8846,
"cdna_start": null,
"cds_end": null,
"cds_length": 2649,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000539277.6",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.303-659A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001193451.2",
"protein_coding": true,
"protein_id": "ENSP00000442046.1",
"strand": false,
"transcript": "ENST00000539277.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 774,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8805,
"cdna_start": null,
"cds_end": null,
"cds_length": 2325,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000256062.9",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.-22-659A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000256062.5",
"strand": false,
"transcript": "ENST00000256062.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 966,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": null,
"cds_end": null,
"cds_length": 2901,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904147.1",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.303-659A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574206.1",
"strand": false,
"transcript": "ENST00000904147.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 966,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4951,
"cdna_start": null,
"cds_end": null,
"cds_length": 2901,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944475.1",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.303-659A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614534.1",
"strand": false,
"transcript": "ENST00000944475.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 944,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9032,
"cdna_start": null,
"cds_end": null,
"cds_length": 2835,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367875.2",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.303-659A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354804.1",
"strand": false,
"transcript": "NM_001367875.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 944,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9032,
"cdna_start": null,
"cds_end": null,
"cds_length": 2835,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000551659.6",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.303-659A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448112.1",
"strand": false,
"transcript": "ENST00000551659.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 941,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3859,
"cdna_start": null,
"cds_end": null,
"cds_length": 2826,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944476.1",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.303-659A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614535.1",
"strand": false,
"transcript": "ENST00000944476.1",
"transcript_support_level": null
},
{
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"aa_length": 906,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3915,
"cdna_start": null,
"cds_end": null,
"cds_length": 2721,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000552618.5",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.303-659A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449043.1",
"strand": false,
"transcript": "ENST00000552618.5",
"transcript_support_level": 5
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2715,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000939869.1",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.303-659A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000609928.1",
"strand": false,
"transcript": "ENST00000939869.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000944477.1",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.303-659A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000614536.1",
"strand": false,
"transcript": "ENST00000944477.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000944479.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000614538.1",
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},
{
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"feature": "ENST00000939868.1",
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"protein_coding": true,
"protein_id": "ENSP00000609927.1",
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},
{
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"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000904146.1",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.303-659A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000574205.1",
"strand": false,
"transcript": "ENST00000904146.1",
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},
{
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],
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"feature": "ENST00000944480.1",
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"hgvs_c": "c.303-659A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000614539.1",
"strand": false,
"transcript": "ENST00000944480.1",
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},
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"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
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"feature": "ENST00000939870.1",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.303-659A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000609929.1",
"strand": false,
"transcript": "ENST00000939870.1",
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},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000944474.1",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.303-659A>G",
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"protein_id": "ENSP00000614533.1",
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},
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],
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"feature": "ENST00000944478.1",
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},
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"consequences": [
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],
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"feature": "ENST00000904150.1",
"gene_hgnc_id": 24099,
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"strand": false,
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
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"feature": "NM_175861.3",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.-22-659A>G",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_787057.2",
"strand": false,
"transcript": "NM_175861.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2283,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944481.1",
"gene_hgnc_id": 24099,
"gene_symbol": "TMTC1",
"hgvs_c": "c.303-659A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614540.1",
"strand": false,
"transcript": "ENST00000944481.1",
"transcript_support_level": null
},
{
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