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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: 17-8205021-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8205021&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8205021,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000585124.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.885C>G",
"hgvs_p": "p.Ser295Ser",
"transcript": "NM_004217.4",
"protein_id": "NP_004208.2",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 344,
"cds_start": 885,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": "ENST00000585124.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.885C>G",
"hgvs_p": "p.Ser295Ser",
"transcript": "ENST00000585124.6",
"protein_id": "ENSP00000463999.1",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 344,
"cds_start": 885,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": "NM_004217.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.888C>G",
"hgvs_p": "p.Ser296Ser",
"transcript": "ENST00000316199.10",
"protein_id": "ENSP00000313950.6",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 345,
"cds_start": 888,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.789C>G",
"hgvs_p": "p.Ser263Ser",
"transcript": "ENST00000578549.5",
"protein_id": "ENSP00000462207.1",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 312,
"cds_start": 789,
"cds_end": null,
"cds_length": 939,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.888C>G",
"hgvs_p": "p.Ser296Ser",
"transcript": "NM_001284526.2",
"protein_id": "NP_001271455.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 345,
"cds_start": 888,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 1246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.885C>G",
"hgvs_p": "p.Ser295Ser",
"transcript": "NM_001313950.2",
"protein_id": "NP_001300879.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 344,
"cds_start": 885,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 1219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.789C>G",
"hgvs_p": "p.Ser263Ser",
"transcript": "NM_001313953.3",
"protein_id": "NP_001300882.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 312,
"cds_start": 789,
"cds_end": null,
"cds_length": 939,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.765C>G",
"hgvs_p": "p.Ser255Ser",
"transcript": "NM_001313952.2",
"protein_id": "NP_001300881.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 304,
"cds_start": 765,
"cds_end": null,
"cds_length": 915,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.762C>G",
"hgvs_p": "p.Ser254Ser",
"transcript": "NM_001256834.3",
"protein_id": "NP_001243763.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 303,
"cds_start": 762,
"cds_end": null,
"cds_length": 912,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.762C>G",
"hgvs_p": "p.Ser254Ser",
"transcript": "NM_001313951.1",
"protein_id": "NP_001300880.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 303,
"cds_start": 762,
"cds_end": null,
"cds_length": 912,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.762C>G",
"hgvs_p": "p.Ser254Ser",
"transcript": "ENST00000534871.5",
"protein_id": "ENSP00000443869.1",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 303,
"cds_start": 762,
"cds_end": null,
"cds_length": 912,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 1167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.576C>G",
"hgvs_p": "p.Ser192Ser",
"transcript": "ENST00000584972.5",
"protein_id": "ENSP00000462858.1",
"transcript_support_level": 3,
"aa_start": 192,
"aa_end": null,
"aa_length": 241,
"cds_start": 576,
"cds_end": null,
"cds_length": 726,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.429C>G",
"hgvs_p": "p.Ser143Ser",
"transcript": "NM_001313954.2",
"protein_id": "NP_001300883.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 192,
"cds_start": 429,
"cds_end": null,
"cds_length": 579,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.381C>G",
"hgvs_p": "p.Ser127Ser",
"transcript": "NM_001313955.2",
"protein_id": "NP_001300884.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 176,
"cds_start": 381,
"cds_end": null,
"cds_length": 531,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.762C>G",
"hgvs_p": "p.Ser254Ser",
"transcript": "XM_011524072.4",
"protein_id": "XP_011522374.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 303,
"cds_start": 762,
"cds_end": null,
"cds_length": 912,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.762C>G",
"hgvs_p": "p.Ser254Ser",
"transcript": "XM_047437050.1",
"protein_id": "XP_047293006.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 303,
"cds_start": 762,
"cds_end": null,
"cds_length": 912,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 1290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.666C>G",
"hgvs_p": "p.Ser222Ser",
"transcript": "XM_047437051.1",
"protein_id": "XP_047293007.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 271,
"cds_start": 666,
"cds_end": null,
"cds_length": 816,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.429C>G",
"hgvs_p": "p.Ser143Ser",
"transcript": "XM_017025311.2",
"protein_id": "XP_016880800.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 192,
"cds_start": 429,
"cds_end": null,
"cds_length": 579,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "n.407C>G",
"hgvs_p": null,
"transcript": "ENST00000578753.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "n.*232C>G",
"hgvs_p": null,
"transcript": "ENST00000580998.5",
"protein_id": "ENSP00000461981.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "n.814C>G",
"hgvs_p": null,
"transcript": "NR_132730.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "n.750C>G",
"hgvs_p": null,
"transcript": "NR_132731.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "n.*232C>G",
"hgvs_p": null,
"transcript": "ENST00000580998.5",
"protein_id": "ENSP00000461981.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 7,
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"gene_symbol": "AURKB",
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"hgvs_c": "c.*244C>G",
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"transcript": "ENST00000577833.5",
"protein_id": "ENSP00000463636.1",
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}
],
"gene_symbol": "AURKB",
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"dbsnp": "rs2241909",
"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": -0.761,
"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": "ENST00000585124.6",
"gene_symbol": "AURKB",
"hgnc_id": 11390,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.885C>G",
"hgvs_p": "p.Ser295Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}