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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: 22-30375469-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30375469&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30375469,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001017437.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.1673-10T>C",
"hgvs_p": null,
"transcript": "NM_001017437.5",
"protein_id": "NP_001017437.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": null,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "ENST00000338306.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017437.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.1673-10T>C",
"hgvs_p": null,
"transcript": "ENST00000338306.8",
"protein_id": "ENSP00000343087.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": null,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "NM_001017437.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338306.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.1673-10T>C",
"hgvs_p": null,
"transcript": "ENST00000405659.5",
"protein_id": "ENSP00000385357.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": null,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405659.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Leu562Leu",
"transcript": "XM_006724278.5",
"protein_id": "XP_006724341.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 759,
"cds_start": 1684,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 4882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724278.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Leu562Leu",
"transcript": "XM_011530263.4",
"protein_id": "XP_011528565.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 759,
"cds_start": 1684,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 4892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530263.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Leu562Leu",
"transcript": "XM_024452258.2",
"protein_id": "XP_024308026.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 759,
"cds_start": 1684,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2404,
"cdna_end": null,
"cdna_length": 4928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452258.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Leu562Leu",
"transcript": "XM_047441441.1",
"protein_id": "XP_047297397.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 703,
"cds_start": 1684,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441441.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.1411T>C",
"hgvs_p": "p.Leu471Leu",
"transcript": "XM_024452259.2",
"protein_id": "XP_024308027.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 668,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2099,
"cdna_end": null,
"cdna_length": 4623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452259.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.1684T>C",
"hgvs_p": "p.Leu562Leu",
"transcript": "XM_011530267.4",
"protein_id": "XP_011528569.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 590,
"cds_start": 1684,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530267.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.616T>C",
"hgvs_p": "p.Leu206Leu",
"transcript": "XM_011530269.3",
"protein_id": "XP_011528571.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 403,
"cds_start": 616,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530269.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.1673-10T>C",
"hgvs_p": null,
"transcript": "NM_001318334.2",
"protein_id": "NP_001305263.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": null,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318334.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.758-10T>C",
"hgvs_p": null,
"transcript": "ENST00000943832.1",
"protein_id": "ENSP00000613891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": null,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943832.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.1673-55T>C",
"hgvs_p": null,
"transcript": "XM_006724279.5",
"protein_id": "XP_006724342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": null,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724279.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.1673-790T>C",
"hgvs_p": null,
"transcript": "XM_006724280.5",
"protein_id": "XP_006724343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724280.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.1673-790T>C",
"hgvs_p": null,
"transcript": "XM_047441442.1",
"protein_id": "XP_047297398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.1673-790T>C",
"hgvs_p": null,
"transcript": "XM_011530266.4",
"protein_id": "XP_011528568.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": null,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530266.4"
},
{
"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": "RNF215",
"gene_hgnc_id": 33434,
"hgvs_c": "n.*1306A>G",
"hgvs_p": null,
"transcript": "ENST00000332468.5",
"protein_id": "ENSP00000487588.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8141,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000332468.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1656",
"gene_hgnc_id": null,
"hgvs_c": "n.947A>G",
"hgvs_p": null,
"transcript": "NR_046312.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7605,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046312.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF215",
"gene_hgnc_id": 33434,
"hgvs_c": "n.*1306A>G",
"hgvs_p": null,
"transcript": "ENST00000332468.5",
"protein_id": "ENSP00000487588.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8141,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000332468.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "n.2297-17T>C",
"hgvs_p": null,
"transcript": "ENST00000475975.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4789,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475975.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "n.401-790T>C",
"hgvs_p": null,
"transcript": "ENST00000482413.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 884,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482413.1"
}
],
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"dbsnp": "rs1002189",
"frequency_reference_population": 0.22192523,
"hom_count_reference_population": 41915,
"allele_count_reference_population": 358004,
"gnomad_exomes_af": 0.223919,
"gnomad_genomes_af": 0.202785,
"gnomad_exomes_ac": 327147,
"gnomad_genomes_ac": 30857,
"gnomad_exomes_homalt": 38526,
"gnomad_genomes_homalt": 3389,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.786,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.2,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001017437.5",
"gene_symbol": "CCDC157",
"hgnc_id": 33854,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1673-10T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_046312.1",
"gene_symbol": "KIAA1656",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.947A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000332468.5",
"gene_symbol": "RNF215",
"hgnc_id": 33434,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*1306A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}