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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: 6-150394226-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=150394226&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IYD",
"hgnc_id": 21071,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Ala220Thr",
"inheritance_mode": "AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001164694.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP3_Moderate,PP5_Very_Strong",
"acmg_score": 10,
"allele_count_reference_population": 70,
"alphamissense_prediction": null,
"alphamissense_score": 0.3414,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.27,
"chr": "6",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Iodotyrosine deiodination defect",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8631462454795837,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 289,
"aa_ref": "A",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8622,
"cdna_start": 678,
"cds_end": null,
"cds_length": 870,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_203395.3",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Ala220Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344419.8",
"protein_coding": true,
"protein_id": "NP_981932.1",
"strand": true,
"transcript": "NM_203395.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 289,
"aa_ref": "A",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8622,
"cdna_start": 678,
"cds_end": null,
"cds_length": 870,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000344419.8",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Ala220Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_203395.3",
"protein_coding": true,
"protein_id": "ENSP00000343763.4",
"strand": true,
"transcript": "ENST00000344419.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 293,
"aa_ref": "A",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7513,
"cdna_start": 798,
"cds_end": null,
"cds_length": 882,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000229447.9",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Ala220Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000229447.5",
"strand": true,
"transcript": "ENST00000229447.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 270,
"aa_ref": "A",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1180,
"cdna_start": 693,
"cds_end": null,
"cds_length": 813,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000392255.7",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Ala220Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376084.3",
"strand": true,
"transcript": "ENST00000392255.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 247,
"aa_ref": "A",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 882,
"cdna_start": 737,
"cds_end": null,
"cds_length": 744,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000392256.6",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Ala220Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376085.2",
"strand": true,
"transcript": "ENST00000392256.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 192,
"aa_ref": "A",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 684,
"cdna_start": 516,
"cds_end": null,
"cds_length": 579,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000425615.3",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Ala165Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390081.3",
"strand": true,
"transcript": "ENST00000425615.3",
"transcript_support_level": 1
},
{
"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": 994,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000367335.7",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "n.658G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000356304.3",
"strand": true,
"transcript": "ENST00000367335.7",
"transcript_support_level": 1
},
{
"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": 551,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000422583.2",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "n.*197G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000397342.2",
"strand": true,
"transcript": "ENST00000422583.2",
"transcript_support_level": 1
},
{
"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": 551,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000422583.2",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "n.*197G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000397342.2",
"strand": true,
"transcript": "ENST00000422583.2",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 334,
"aa_ref": "A",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1667,
"cdna_start": 813,
"cds_end": null,
"cds_length": 1005,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892603.1",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Ala265Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562662.1",
"strand": true,
"transcript": "ENST00000892603.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 293,
"aa_ref": "A",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8734,
"cdna_start": 678,
"cds_end": null,
"cds_length": 882,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001164694.2",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Ala220Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158166.1",
"strand": true,
"transcript": "NM_001164694.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 693,
"cds_end": null,
"cds_length": 855,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000500320.7",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Ala220Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441276.1",
"strand": true,
"transcript": "ENST00000500320.7",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 247,
"aa_ref": "A",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8683,
"cdna_start": 678,
"cds_end": null,
"cds_length": 744,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001164695.2",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Ala220Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158167.1",
"strand": true,
"transcript": "NM_001164695.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 225,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 578,
"cds_end": null,
"cds_length": 678,
"cds_start": 466,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892602.1",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Ala156Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562661.1",
"strand": true,
"transcript": "ENST00000892602.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 207,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8554,
"cdna_start": 610,
"cds_end": null,
"cds_length": 624,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318495.2",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Ala138Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305424.1",
"strand": true,
"transcript": "NM_001318495.2",
"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": 8795,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_134655.2",
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"hgvs_c": "n.678G>A",
"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": "NR_134655.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs121918140",
"effect": "missense_variant",
"frequency_reference_population": 0.000043370026,
"gene_hgnc_id": 21071,
"gene_symbol": "IYD",
"gnomad_exomes_ac": 54,
"gnomad_exomes_af": 0.000036939,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 16,
"gnomad_genomes_af": 0.000105161,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Iodotyrosine deiodination defect",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.065,
"pos": 150394226,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.731,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001164694.2"
}
]
}