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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: 22-38716069-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38716069&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38716069,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004286.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Asn156Ser",
"transcript": "NM_004286.5",
"protein_id": "NP_004277.2",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 669,
"cds_start": 467,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216044.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004286.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Asn156Ser",
"transcript": "ENST00000216044.10",
"protein_id": "ENSP00000216044.5",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 669,
"cds_start": 467,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004286.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216044.10"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Asn156Ser",
"transcript": "ENST00000870601.1",
"protein_id": "ENSP00000540660.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 686,
"cds_start": 467,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870601.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Asn156Ser",
"transcript": "ENST00000870603.1",
"protein_id": "ENSP00000540662.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 677,
"cds_start": 467,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870603.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Asn138Ser",
"transcript": "ENST00000870602.1",
"protein_id": "ENSP00000540661.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 651,
"cds_start": 413,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870602.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Asn156Ser",
"transcript": "ENST00000960413.1",
"protein_id": "ENSP00000630472.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 622,
"cds_start": 467,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960413.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Asn156Ser",
"transcript": "ENST00000915793.1",
"protein_id": "ENSP00000585852.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 621,
"cds_start": 467,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915793.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Asn156Ser",
"transcript": "ENST00000870600.1",
"protein_id": "ENSP00000540659.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 611,
"cds_start": 467,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870600.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.224A>G",
"hgvs_p": "p.Asn75Ser",
"transcript": "ENST00000484657.5",
"protein_id": "ENSP00000442881.1",
"transcript_support_level": 4,
"aa_start": 75,
"aa_end": null,
"aa_length": 151,
"cds_start": 224,
"cds_end": null,
"cds_length": 458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484657.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.224A>G",
"hgvs_p": "p.Asn75Ser",
"transcript": "ENST00000488787.5",
"protein_id": "ENSP00000439505.1",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 85,
"cds_start": 224,
"cds_end": null,
"cds_length": 260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488787.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Asn156Ser",
"transcript": "XM_017029100.3",
"protein_id": "XP_016884589.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 726,
"cds_start": 467,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029100.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Asn156Ser",
"transcript": "XM_011530537.3",
"protein_id": "XP_011528839.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 703,
"cds_start": 467,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530537.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Asn156Ser",
"transcript": "XM_047441614.1",
"protein_id": "XP_047297570.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 695,
"cds_start": 467,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441614.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.317A>G",
"hgvs_p": "p.Asn106Ser",
"transcript": "XM_017029101.3",
"protein_id": "XP_016884590.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 684,
"cds_start": 317,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029101.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Asn156Ser",
"transcript": "XM_047441615.1",
"protein_id": "XP_047297571.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 664,
"cds_start": 467,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441615.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Asn156Ser",
"transcript": "XM_047441616.1",
"protein_id": "XP_047297572.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 656,
"cds_start": 467,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441616.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Asn156Ser",
"transcript": "XM_047441617.1",
"protein_id": "XP_047297573.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 487,
"cds_start": 467,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441617.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "n.*142A>G",
"hgvs_p": null,
"transcript": "ENST00000418601.1",
"protein_id": "ENSP00000397891.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000418601.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "n.305A>G",
"hgvs_p": null,
"transcript": "ENST00000461428.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461428.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "n.479A>G",
"hgvs_p": null,
"transcript": "XR_937967.3",
"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": "XR_937967.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "n.*142A>G",
"hgvs_p": null,
"transcript": "ENST00000418601.1",
"protein_id": "ENSP00000397891.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000418601.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"hgvs_c": "c.*107A>G",
"hgvs_p": null,
"transcript": "ENST00000470836.1",
"protein_id": "ENSP00000442628.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 38,
"cds_start": null,
"cds_end": null,
"cds_length": 117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470836.1"
}
],
"gene_symbol": "GTPBP1",
"gene_hgnc_id": 4669,
"dbsnp": "rs759283436",
"frequency_reference_population": 0.0000062390895,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000620406,
"gnomad_genomes_af": 0.00000657307,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0896003246307373,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.0576,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.949,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004286.5",
"gene_symbol": "GTPBP1",
"hgnc_id": 4669,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Asn156Ser"
}
],
"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
}