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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: 14-23080076-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23080076&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACIN1",
"hgnc_id": 17066,
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ser478Phe",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_014977.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC124903288",
"hgnc_id": null,
"hgvs_c": "n.1049G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "XR_007064077.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 87408,
"alphamissense_prediction": null,
"alphamissense_score": 0.098,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.001704782247543335,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "S",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4460,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 3852,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386863.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Ser420Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000605057.6",
"protein_coding": true,
"protein_id": "NP_001373792.1",
"strand": false,
"transcript": "NM_001386863.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "S",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4460,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 3852,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000605057.6",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Ser420Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001386863.1",
"protein_coding": true,
"protein_id": "ENSP00000474349.1",
"strand": false,
"transcript": "ENST00000605057.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1341,
"aa_ref": "S",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4935,
"cdna_start": 1761,
"cds_end": null,
"cds_length": 4026,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000262710.5",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ser478Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262710.1",
"strand": false,
"transcript": "ENST00000262710.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "S",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 3987,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000555053.5",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ser478Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451328.1",
"strand": false,
"transcript": "ENST00000555053.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1341,
"aa_ref": "S",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4795,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 4026,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_014977.4",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ser478Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055792.2",
"strand": false,
"transcript": "NM_014977.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "S",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4756,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 3987,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001164814.2",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ser478Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158286.2",
"strand": false,
"transcript": "NM_001164814.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1301,
"aa_ref": "S",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 3906,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001164815.2",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1313C>T",
"hgvs_p": "p.Ser438Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158287.2",
"strand": false,
"transcript": "NM_001164815.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1301,
"aa_ref": "S",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4815,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 3906,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000457657.5",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1313C>T",
"hgvs_p": "p.Ser438Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405677.1",
"strand": false,
"transcript": "ENST00000457657.5",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1282,
"aa_ref": "S",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4476,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 3849,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000897553.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Ser420Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567612.1",
"strand": false,
"transcript": "ENST00000897553.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "S",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 3843,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000941951.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Ser420Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612010.1",
"strand": false,
"transcript": "ENST00000941951.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1275,
"aa_ref": "S",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4431,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 3828,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897559.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ser380Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567618.1",
"strand": false,
"transcript": "ENST00000897559.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1271,
"aa_ref": "S",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4446,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 3816,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000897552.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Ser420Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567611.1",
"strand": false,
"transcript": "ENST00000897552.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 1244,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4344,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000897558.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Ser420Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567617.1",
"strand": false,
"transcript": "ENST00000897558.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1242,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4346,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 3729,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897554.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ser380Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567613.1",
"strand": false,
"transcript": "ENST00000897554.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "S",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4328,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 3723,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916202.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ser380Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586261.1",
"strand": false,
"transcript": "ENST00000916202.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1233,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4313,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 3702,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000897556.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Ser420Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567615.1",
"strand": false,
"transcript": "ENST00000897556.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 1231,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4307,
"cdna_start": 1166,
"cds_end": null,
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"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897555.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ser380Phe",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000567614.1",
"strand": false,
"transcript": "ENST00000897555.1",
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},
{
"aa_alt": "F",
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4304,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 3693,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897557.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ser380Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567616.1",
"strand": false,
"transcript": "ENST00000897557.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4262,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 3666,
"cds_start": 1073,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000916204.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ser358Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586263.1",
"strand": false,
"transcript": "ENST00000916204.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1212,
"aa_ref": "S",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4239,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 3639,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897560.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ser380Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567619.1",
"strand": false,
"transcript": "ENST00000897560.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1205,
"aa_ref": "S",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
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