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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: 4-55370059-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=55370059&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SRD5A3",
"hgnc_id": 25812,
"hgvs_c": "c.925C>G",
"hgvs_p": "p.His309Asp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_024592.5",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000288695",
"hgnc_id": null,
"hgvs_c": "c.563-1615C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000679707.1",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SRD5A3-AS1",
"hgnc_id": 44138,
"hgvs_c": "n.269-2896G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000433175.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 4094,
"alphamissense_prediction": null,
"alphamissense_score": 0.1592,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "4",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "SRD5A3-congenital disorder of glycosylation,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.01405489444732666,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 318,
"aa_ref": "H",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 957,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_024592.5",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "c.925C>G",
"hgvs_p": "p.His309Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264228.9",
"protein_coding": true,
"protein_id": "NP_078868.1",
"strand": true,
"transcript": "NM_024592.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 318,
"aa_ref": "H",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 957,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000264228.9",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "c.925C>G",
"hgvs_p": "p.His309Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024592.5",
"protein_coding": true,
"protein_id": "ENSP00000264228.4",
"strand": true,
"transcript": "ENST00000264228.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 284,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2676,
"cdna_start": null,
"cds_end": null,
"cds_length": 855,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679707.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288695",
"hgvs_c": "c.563-1615C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505713.1",
"strand": true,
"transcript": "ENST00000679707.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000433175.6",
"gene_hgnc_id": 44138,
"gene_symbol": "SRD5A3-AS1",
"hgvs_c": "n.269-2896G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000433175.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 926,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000510637.5",
"gene_hgnc_id": 44138,
"gene_symbol": "SRD5A3-AS1",
"hgvs_c": "n.364-2896G>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000510637.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 317,
"aa_ref": "H",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3176,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 954,
"cds_start": 922,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000918496.1",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "c.922C>G",
"hgvs_p": "p.His308Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588555.1",
"strand": true,
"transcript": "ENST00000918496.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 314,
"aa_ref": "H",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1176,
"cdna_start": 935,
"cds_end": null,
"cds_length": 945,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870318.1",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "c.913C>G",
"hgvs_p": "p.His305Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540377.1",
"strand": true,
"transcript": "ENST00000870318.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 273,
"aa_ref": "H",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3926,
"cdna_start": 885,
"cds_end": null,
"cds_length": 822,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001410732.1",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "c.790C>G",
"hgvs_p": "p.His264Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397661.1",
"strand": true,
"transcript": "NM_001410732.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 273,
"aa_ref": "H",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2766,
"cdna_start": 914,
"cds_end": null,
"cds_length": 822,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000679836.1",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "c.790C>G",
"hgvs_p": "p.His264Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506601.1",
"strand": true,
"transcript": "ENST00000679836.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 252,
"aa_ref": "H",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 841,
"cds_end": null,
"cds_length": 759,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000870317.1",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "c.727C>G",
"hgvs_p": "p.His243Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540376.1",
"strand": true,
"transcript": "ENST00000870317.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 182,
"aa_ref": "H",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 768,
"cdna_start": 517,
"cds_end": null,
"cds_length": 549,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000505210.1",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "c.517C>G",
"hgvs_p": "p.His173Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424714.1",
"strand": true,
"transcript": "ENST00000505210.1",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 273,
"aa_ref": "H",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3882,
"cdna_start": 841,
"cds_end": null,
"cds_length": 822,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017008601.2",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "c.790C>G",
"hgvs_p": "p.His264Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864090.1",
"strand": true,
"transcript": "XM_017008601.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 207,
"aa_ref": "H",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3728,
"cdna_start": 687,
"cds_end": null,
"cds_length": 624,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005265767.4",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "c.592C>G",
"hgvs_p": "p.His198Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265824.1",
"strand": true,
"transcript": "XM_005265767.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 236,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": null,
"cds_end": null,
"cds_length": 711,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680700.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288695",
"hgvs_c": "c.562+5788C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504926.1",
"strand": true,
"transcript": "ENST00000680700.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 822,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000677177.2",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "n.*531C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000504451.2",
"strand": true,
"transcript": "ENST00000677177.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1031,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000677217.1",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "n.662C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000677217.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3481,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000677930.1",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "n.3257C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000677930.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000678717.1",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "n.822C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000678717.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4364,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000679351.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288695",
"hgvs_c": "n.*531C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505676.1",
"strand": true,
"transcript": "ENST00000679351.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 822,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000677177.2",
"gene_hgnc_id": 25812,
"gene_symbol": "SRD5A3",
"hgvs_c": "n.*531C>G",
"hgvs_p": null,
"intron_rank": null,
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}
],
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"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|not provided|SRD5A3-congenital disorder of glycosylation",
"phylop100way_prediction": "Benign",
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"ref": "C",
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"splice_prediction_selected": "Benign",
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}
]
}