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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: 4-38905820-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=38905820&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 38905820,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001330764.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"transcript": "NM_138389.4",
"protein_id": "NP_612398.2",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 563,
"cds_start": 616,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358869.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138389.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"transcript": "ENST00000358869.5",
"protein_id": "ENSP00000351740.2",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 563,
"cds_start": 616,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138389.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358869.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"transcript": "NM_001330764.2",
"protein_id": "NP_001317693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330764.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"transcript": "ENST00000515037.5",
"protein_id": "ENSP00000424115.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515037.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"transcript": "NM_001350631.2",
"protein_id": "NP_001337560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350631.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"transcript": "XM_047416412.1",
"protein_id": "XP_047272368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416412.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"transcript": "ENST00000903774.1",
"protein_id": "ENSP00000573833.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 602,
"cds_start": 616,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903774.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"transcript": "ENST00000967134.1",
"protein_id": "ENSP00000637193.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 602,
"cds_start": 616,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967134.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"transcript": "NM_001375792.1",
"protein_id": "NP_001362721.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 563,
"cds_start": 616,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375792.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"transcript": "ENST00000967133.1",
"protein_id": "ENSP00000637192.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 563,
"cds_start": 616,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967133.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"transcript": "ENST00000967135.1",
"protein_id": "ENSP00000637194.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 563,
"cds_start": 616,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967135.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Arg204Trp",
"transcript": "NM_001350632.2",
"protein_id": "NP_001337561.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 561,
"cds_start": 610,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350632.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"transcript": "NM_001375793.1",
"protein_id": "NP_001362722.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 545,
"cds_start": 616,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375793.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"transcript": "ENST00000903773.1",
"protein_id": "ENSP00000573832.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 545,
"cds_start": 616,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903773.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"transcript": "NM_001350635.3",
"protein_id": "NP_001337564.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 464,
"cds_start": 616,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350635.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79Trp",
"transcript": "NM_001350633.2",
"protein_id": "NP_001337562.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 436,
"cds_start": 235,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350633.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "NM_001350634.2",
"protein_id": "NP_001337563.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 365,
"cds_start": 60,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350634.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"transcript": "NM_001330764.2",
"protein_id": "NP_001317693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330764.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"transcript": "ENST00000515037.5",
"protein_id": "ENSP00000424115.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515037.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"transcript": "NM_001350631.2",
"protein_id": "NP_001337560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350631.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"transcript": "XM_047416412.1",
"protein_id": "XP_047272368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416412.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"hgvs_c": "n.297C>T",
"hgvs_p": null,
"transcript": "NR_033290.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_033290.2"
}
],
"gene_symbol": "FAM114A1",
"gene_hgnc_id": 25087,
"dbsnp": "rs139789863",
"frequency_reference_population": 0.000105325766,
"hom_count_reference_population": 0,
"allele_count_reference_population": 170,
"gnomad_exomes_af": 0.0000827764,
"gnomad_genomes_af": 0.000321797,
"gnomad_exomes_ac": 121,
"gnomad_genomes_ac": 49,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5379223227500916,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.321,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1495,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.562,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001330764.2",
"gene_symbol": "FAM114A1",
"hgnc_id": 25087,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-6C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}