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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: 22-30370477-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30370477&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30370477,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000338306.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "NM_001017437.5",
"protein_id": "NP_001017437.3",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 752,
"cds_start": 572,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "ENST00000338306.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "ENST00000338306.8",
"protein_id": "ENSP00000343087.3",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 752,
"cds_start": 572,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "NM_001017437.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "ENST00000405659.5",
"protein_id": "ENSP00000385357.1",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 752,
"cds_start": 572,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "NM_001318334.2",
"protein_id": "NP_001305263.2",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 752,
"cds_start": 572,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "ENST00000430839.5",
"protein_id": "ENSP00000401837.1",
"transcript_support_level": 3,
"aa_start": 191,
"aa_end": null,
"aa_length": 200,
"cds_start": 572,
"cds_end": null,
"cds_length": 603,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "ENST00000445005.5",
"protein_id": "ENSP00000387491.1",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 195,
"cds_start": 572,
"cds_end": null,
"cds_length": 589,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "XM_006724278.5",
"protein_id": "XP_006724341.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 759,
"cds_start": 572,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 4882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "XM_011530263.4",
"protein_id": "XP_011528565.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 759,
"cds_start": 572,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 4892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "XM_024452258.2",
"protein_id": "XP_024308026.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 759,
"cds_start": 572,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 4928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "XM_006724279.5",
"protein_id": "XP_006724342.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 737,
"cds_start": 572,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "XM_047441441.1",
"protein_id": "XP_047297397.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 703,
"cds_start": 572,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.299C>A",
"hgvs_p": "p.Pro100His",
"transcript": "XM_024452259.2",
"protein_id": "XP_024308027.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 668,
"cds_start": 299,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 4623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "XM_006724280.5",
"protein_id": "XP_006724343.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 595,
"cds_start": 572,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "XM_047441442.1",
"protein_id": "XP_047297398.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 595,
"cds_start": 572,
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"cds_length": 1788,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 4722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "XM_011530266.4",
"protein_id": "XP_011528568.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 591,
"cds_start": 572,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "XM_011530267.4",
"protein_id": "XP_011528569.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 590,
"cds_start": 572,
"cds_end": null,
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"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "XM_011530268.4",
"protein_id": "XP_011528570.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 511,
"cds_start": 572,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Pro191His",
"transcript": "XM_011530270.4",
"protein_id": "XP_011528572.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 394,
"cds_start": 572,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1886,
"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": "RNF215",
"gene_hgnc_id": 33434,
"hgvs_c": "n.*6298G>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"hgvs_c": "n.497C>A",
"hgvs_p": null,
"transcript": "ENST00000475975.5",
"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": 4789,
"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": 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.5939G>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7605,
"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": 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.*6298G>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC157",
"gene_hgnc_id": 33854,
"dbsnp": "rs12167903",
"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": 0.15695205330848694,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.41,
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000338306.8",
"gene_symbol": "CCDC157",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Pro191His"
},
{
"score": 0,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_046312.1",
"gene_symbol": "KIAA1656",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.5939G>T",
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},
{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000332468.5",
"gene_symbol": "RNF215",
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"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*6298G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}