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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: 16-88832047-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=88832047&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 88832047,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001323544.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.953T>G",
"hgvs_p": "p.Met318Arg",
"transcript": "NM_000512.5",
"protein_id": "NP_000503.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 522,
"cds_start": 953,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268695.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000512.5"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.953T>G",
"hgvs_p": "p.Met318Arg",
"transcript": "ENST00000268695.10",
"protein_id": "ENSP00000268695.5",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 522,
"cds_start": 953,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000512.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268695.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "n.4362T>G",
"hgvs_p": null,
"transcript": "ENST00000562593.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000562593.5"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.1064T>G",
"hgvs_p": "p.Met355Arg",
"transcript": "ENST00000862787.1",
"protein_id": "ENSP00000532846.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 559,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862787.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.971T>G",
"hgvs_p": "p.Met324Arg",
"transcript": "NM_001323544.2",
"protein_id": "NP_001310473.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 528,
"cds_start": 971,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323544.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.953T>G",
"hgvs_p": "p.Met318Arg",
"transcript": "ENST00000928281.1",
"protein_id": "ENSP00000598340.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 514,
"cds_start": 953,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928281.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.953T>G",
"hgvs_p": "p.Met318Arg",
"transcript": "ENST00000951737.1",
"protein_id": "ENSP00000621796.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 482,
"cds_start": 953,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951737.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Met133Arg",
"transcript": "NM_001323543.2",
"protein_id": "NP_001310472.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 337,
"cds_start": 398,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323543.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.971T>G",
"hgvs_p": "p.Met324Arg",
"transcript": "XM_011522982.3",
"protein_id": "XP_011521284.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 581,
"cds_start": 971,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522982.3"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.953T>G",
"hgvs_p": "p.Met318Arg",
"transcript": "XM_005256301.4",
"protein_id": "XP_005256358.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 575,
"cds_start": 953,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256301.4"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.971T>G",
"hgvs_p": "p.Met324Arg",
"transcript": "XM_047433889.1",
"protein_id": "XP_047289845.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 528,
"cds_start": 971,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433889.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.971T>G",
"hgvs_p": "p.Met324Arg",
"transcript": "XM_017023112.3",
"protein_id": "XP_016878601.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 508,
"cds_start": 971,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023112.3"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.953T>G",
"hgvs_p": "p.Met318Arg",
"transcript": "XM_047433890.1",
"protein_id": "XP_047289846.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 502,
"cds_start": 953,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433890.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Met133Arg",
"transcript": "XM_017023113.2",
"protein_id": "XP_016878602.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 390,
"cds_start": 398,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023113.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Met133Arg",
"transcript": "XM_047433892.1",
"protein_id": "XP_047289848.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 390,
"cds_start": 398,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433892.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Met133Arg",
"transcript": "XM_047433891.1",
"protein_id": "XP_047289847.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 317,
"cds_start": 398,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "c.121-5209T>G",
"hgvs_p": null,
"transcript": "ENST00000862788.1",
"protein_id": "ENSP00000532847.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862788.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "n.541T>G",
"hgvs_p": null,
"transcript": "ENST00000562931.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000562931.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "n.*424T>G",
"hgvs_p": null,
"transcript": "ENST00000567525.5",
"protein_id": "ENSP00000454484.1",
"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": "ENST00000567525.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "n.*916T>G",
"hgvs_p": null,
"transcript": "ENST00000568613.5",
"protein_id": "ENSP00000457921.1",
"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": "ENST00000568613.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "n.*424T>G",
"hgvs_p": null,
"transcript": "ENST00000567525.5",
"protein_id": "ENSP00000454484.1",
"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": "ENST00000567525.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"hgvs_c": "n.*916T>G",
"hgvs_p": null,
"transcript": "ENST00000568613.5",
"protein_id": "ENSP00000457921.1",
"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": "ENST00000568613.5"
}
],
"gene_symbol": "GALNS",
"gene_hgnc_id": 4122,
"dbsnp": "rs746756997",
"frequency_reference_population": 0.0000030983656,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205244,
"gnomad_genomes_af": 0.0000131513,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9921802282333374,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.952,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7366,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.159,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001323544.2",
"gene_symbol": "GALNS",
"hgnc_id": 4122,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.971T>G",
"hgvs_p": "p.Met324Arg"
}
],
"clinvar_disease": " MPS-IV-A,Inborn genetic diseases,Morquio syndrome,Mucopolysaccharidosis,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:8",
"phenotype_combined": "not provided|Inborn genetic diseases|Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}