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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: 12-121846880-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121846880&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121846880,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_002150.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Thr271Thr",
"transcript": "NM_002150.3",
"protein_id": "NP_002141.2",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 393,
"cds_start": 813,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000289004.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002150.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Thr271Thr",
"transcript": "ENST00000289004.8",
"protein_id": "ENSP00000289004.4",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 393,
"cds_start": 813,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002150.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289004.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Thr271Thr",
"transcript": "ENST00000868949.1",
"protein_id": "ENSP00000539008.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 440,
"cds_start": 813,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868949.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Thr288Thr",
"transcript": "ENST00000868952.1",
"protein_id": "ENSP00000539011.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 410,
"cds_start": 864,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868952.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.855C>G",
"hgvs_p": "p.Thr285Thr",
"transcript": "ENST00000868956.1",
"protein_id": "ENSP00000539015.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 407,
"cds_start": 855,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868956.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Thr271Thr",
"transcript": "ENST00000868945.1",
"protein_id": "ENSP00000539004.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 392,
"cds_start": 813,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868945.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.807C>G",
"hgvs_p": "p.Thr269Thr",
"transcript": "ENST00000868959.1",
"protein_id": "ENSP00000539018.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 391,
"cds_start": 807,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868959.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.801C>G",
"hgvs_p": "p.Thr267Thr",
"transcript": "ENST00000868958.1",
"protein_id": "ENSP00000539017.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 389,
"cds_start": 801,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868958.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Thr271Thr",
"transcript": "ENST00000868944.1",
"protein_id": "ENSP00000539003.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 384,
"cds_start": 813,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868944.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Thr271Thr",
"transcript": "ENST00000868954.1",
"protein_id": "ENSP00000539013.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 383,
"cds_start": 813,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868954.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Thr271Thr",
"transcript": "ENST00000868953.1",
"protein_id": "ENSP00000539012.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 377,
"cds_start": 813,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868953.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.723C>G",
"hgvs_p": "p.Thr241Thr",
"transcript": "ENST00000868947.1",
"protein_id": "ENSP00000539006.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 363,
"cds_start": 723,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868947.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.708C>G",
"hgvs_p": "p.Thr236Thr",
"transcript": "ENST00000868946.1",
"protein_id": "ENSP00000539005.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 358,
"cds_start": 708,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868946.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.696C>G",
"hgvs_p": "p.Thr232Thr",
"transcript": "NM_001171993.2",
"protein_id": "NP_001165464.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 354,
"cds_start": 696,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171993.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.696C>G",
"hgvs_p": "p.Thr232Thr",
"transcript": "ENST00000543163.5",
"protein_id": "ENSP00000441677.1",
"transcript_support_level": 5,
"aa_start": 232,
"aa_end": null,
"aa_length": 354,
"cds_start": 696,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543163.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Thr271Thr",
"transcript": "ENST00000868950.1",
"protein_id": "ENSP00000539009.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 354,
"cds_start": 813,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868950.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.723C>G",
"hgvs_p": "p.Thr241Thr",
"transcript": "ENST00000868960.1",
"protein_id": "ENSP00000539019.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 354,
"cds_start": 723,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868960.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Thr271Thr",
"transcript": "ENST00000868948.1",
"protein_id": "ENSP00000539007.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 352,
"cds_start": 813,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868948.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.708C>G",
"hgvs_p": "p.Thr236Thr",
"transcript": "ENST00000868962.1",
"protein_id": "ENSP00000539021.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 349,
"cds_start": 708,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868962.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.597C>G",
"hgvs_p": "p.Thr199Thr",
"transcript": "ENST00000868957.1",
"protein_id": "ENSP00000539016.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 321,
"cds_start": 597,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868957.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Thr173Thr",
"transcript": "ENST00000868955.1",
"protein_id": "ENSP00000539014.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 295,
"cds_start": 519,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868955.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.415-3048C>G",
"hgvs_p": null,
"transcript": "ENST00000868951.1",
"protein_id": "ENSP00000539010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868951.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
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"gene_symbol": "HPD",
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"hgvs_c": "c.415-6832C>G",
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"transcript": "ENST00000868961.1",
"protein_id": "ENSP00000539020.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": null,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868961.1"
}
],
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"dbsnp": "rs144416002",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.79,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_002150.3",
"gene_symbol": "HPD",
"hgnc_id": 5147,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Thr271Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}