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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: 15-73702257-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=73702257&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "CD276",
"hgnc_id": 19137,
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001024736.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1128,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.42302531003952026,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 214,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001024736.2",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318443.10",
"protein_coding": true,
"protein_id": "NP_001019907.1",
"strand": true,
"transcript": "NM_001024736.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 214,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000318443.10",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001024736.2",
"protein_coding": true,
"protein_id": "ENSP00000320084.5",
"strand": true,
"transcript": "ENST00000318443.10",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 316,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 951,
"cdna_start": 82,
"cds_end": null,
"cds_length": 951,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000564751.5",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454940.1",
"strand": true,
"transcript": "ENST00000564751.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 441,
"aa_ref": "A",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 247,
"cds_end": null,
"cds_length": 1326,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000953230.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Ala40Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623289.1",
"strand": true,
"transcript": "ENST00000953230.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 539,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 203,
"cds_end": null,
"cds_length": 1620,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921507.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591566.1",
"strand": true,
"transcript": "ENST00000921507.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 367,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864253.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534312.1",
"strand": true,
"transcript": "ENST00000864253.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 179,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000864256.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534315.1",
"strand": true,
"transcript": "ENST00000864256.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3688,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864257.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534316.1",
"strand": true,
"transcript": "ENST00000864257.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 303,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000864258.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534317.1",
"strand": true,
"transcript": "ENST00000864258.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3445,
"cdna_start": 362,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000864259.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534318.1",
"strand": true,
"transcript": "ENST00000864259.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": 227,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000864260.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534319.1",
"strand": true,
"transcript": "ENST00000864260.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5012,
"cdna_start": 1931,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864261.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534320.1",
"strand": true,
"transcript": "ENST00000864261.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3399,
"cdna_start": 318,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921504.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591563.1",
"strand": true,
"transcript": "ENST00000921504.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3738,
"cdna_start": 657,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921505.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591564.1",
"strand": true,
"transcript": "ENST00000921505.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3361,
"cdna_start": 280,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921506.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591565.1",
"strand": true,
"transcript": "ENST00000921506.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3769,
"cdna_start": 687,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921510.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591569.1",
"strand": true,
"transcript": "ENST00000921510.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3395,
"cdna_start": 314,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921512.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591571.1",
"strand": true,
"transcript": "ENST00000921512.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 309,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953229.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623288.1",
"strand": true,
"transcript": "ENST00000953229.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3367,
"cdna_start": 285,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953231.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623290.1",
"strand": true,
"transcript": "ENST00000953231.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": 412,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000953232.1",
"gene_hgnc_id": 19137,
"gene_symbol": "CD276",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623291.1",
"strand": true,
"transcript": "ENST00000953232.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": 339,
"cds_end": null,
"cds_length": 1605,
"cds_start": 82,
"consequences": [
"missense_variant",
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