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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: 19-35157462-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35157462&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35157462,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000392219.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "NM_014164.6",
"protein_id": "NP_054883.3",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 178,
"cds_start": 103,
"cds_end": null,
"cds_length": 537,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 878,
"mane_select": "ENST00000392219.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "ENST00000392219.7",
"protein_id": "ENSP00000376053.2",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 178,
"cds_start": 103,
"cds_end": null,
"cds_length": 537,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 878,
"mane_select": "NM_014164.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "ENST00000342879.7",
"protein_id": "ENSP00000344254.3",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 178,
"cds_start": 103,
"cds_end": null,
"cds_length": 537,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "ENST00000718431.1",
"protein_id": "ENSP00000520816.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 275,
"cds_start": 103,
"cds_end": null,
"cds_length": 828,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "NM_001320912.2",
"protein_id": "NP_001307841.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 194,
"cds_start": 103,
"cds_end": null,
"cds_length": 585,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "ENST00000543307.5",
"protein_id": "ENSP00000444839.1",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 194,
"cds_start": 103,
"cds_end": null,
"cds_length": 585,
"cdna_start": 183,
"cdna_end": null,
"cdna_length": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "ENST00000588699.5",
"protein_id": "ENSP00000467053.1",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 194,
"cds_start": 103,
"cds_end": null,
"cds_length": 585,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "NM_001164605.2",
"protein_id": "NP_001158077.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 178,
"cds_start": 103,
"cds_end": null,
"cds_length": 537,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "NM_144779.3",
"protein_id": "NP_659003.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 178,
"cds_start": 103,
"cds_end": null,
"cds_length": 537,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "ENST00000423817.7",
"protein_id": "ENSP00000393848.2",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 178,
"cds_start": 103,
"cds_end": null,
"cds_length": 537,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "ENST00000541435.6",
"protein_id": "ENSP00000443390.1",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 178,
"cds_start": 103,
"cds_end": null,
"cds_length": 537,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "ENST00000590686.5",
"protein_id": "ENSP00000465667.1",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 178,
"cds_start": 103,
"cds_end": null,
"cds_length": 537,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "NM_001320913.2",
"protein_id": "NP_001307842.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 147,
"cds_start": 103,
"cds_end": null,
"cds_length": 444,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "ENST00000392218.6",
"protein_id": "ENSP00000376052.1",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 96,
"cds_start": 103,
"cds_end": null,
"cds_length": 291,
"cdna_start": 183,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "XM_047438941.1",
"protein_id": "XP_047294897.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 194,
"cds_start": 103,
"cds_end": null,
"cds_length": 585,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "XM_047438942.1",
"protein_id": "XP_047294898.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 194,
"cds_start": 103,
"cds_end": null,
"cds_length": 585,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala",
"transcript": "XM_047438943.1",
"protein_id": "XP_047294899.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 147,
"cds_start": 103,
"cds_end": null,
"cds_length": 444,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 845,
"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": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.*30T>G",
"hgvs_p": null,
"transcript": "ENST00000496493.5",
"protein_id": "ENSP00000468168.1",
"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": 729,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.103T>G",
"hgvs_p": null,
"transcript": "ENST00000592290.5",
"protein_id": "ENSP00000465174.1",
"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": 883,
"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": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.919T>G",
"hgvs_p": null,
"transcript": "NR_028406.2",
"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": 1619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.*30T>G",
"hgvs_p": null,
"transcript": "ENST00000496493.5",
"protein_id": "ENSP00000468168.1",
"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": 729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"dbsnp": "rs1688005",
"frequency_reference_population": 0.27846014,
"hom_count_reference_population": 70309,
"allele_count_reference_population": 442134,
"gnomad_exomes_af": 0.276008,
"gnomad_genomes_af": 0.301643,
"gnomad_exomes_ac": 396315,
"gnomad_genomes_ac": 45819,
"gnomad_exomes_homalt": 62538,
"gnomad_genomes_homalt": 7771,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000010512870858292445,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.0691,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.276,
"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": -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": "ENST00000392219.7",
"gene_symbol": "FXYD5",
"hgnc_id": 4029,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.103T>G",
"hgvs_p": "p.Ser35Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}