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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: 15-67372267-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=67372267&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 67372267,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001031715.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.910C>G",
"hgvs_p": "p.His304Asp",
"transcript": "NM_001031715.3",
"protein_id": "NP_001026885.2",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 1027,
"cds_start": 910,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335894.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031715.3"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.910C>G",
"hgvs_p": "p.His304Asp",
"transcript": "ENST00000335894.9",
"protein_id": "ENSP00000336861.4",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 1027,
"cds_start": 910,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001031715.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335894.9"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.His131Asp",
"transcript": "ENST00000629425.2",
"protein_id": "ENSP00000486970.1",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 305,
"cds_start": 391,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629425.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.His131Asp",
"transcript": "NM_001322475.2",
"protein_id": "NP_001309404.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 763,
"cds_start": 391,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322475.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.His131Asp",
"transcript": "NM_001322470.2",
"protein_id": "NP_001309399.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 722,
"cds_start": 391,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322470.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.154C>G",
"hgvs_p": "p.His52Asp",
"transcript": "NM_001284347.2",
"protein_id": "NP_001271276.2",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 684,
"cds_start": 154,
"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": "NM_001284347.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.His131Asp",
"transcript": "NM_001322474.2",
"protein_id": "NP_001309403.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 658,
"cds_start": 391,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322474.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.His131Asp",
"transcript": "NM_001322473.2",
"protein_id": "NP_001309402.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 655,
"cds_start": 391,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322473.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.166C>G",
"hgvs_p": "p.His56Asp",
"transcript": "NM_001284348.2",
"protein_id": "NP_001271277.2",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 621,
"cds_start": 166,
"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": "NM_001284348.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.154C>G",
"hgvs_p": "p.His52Asp",
"transcript": "NM_001322471.2",
"protein_id": "NP_001309400.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 586,
"cds_start": 154,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322471.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.154C>G",
"hgvs_p": "p.His52Asp",
"transcript": "NM_001322472.2",
"protein_id": "NP_001309401.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 579,
"cds_start": 154,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322472.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.His131Asp",
"transcript": "NM_001284349.2",
"protein_id": "NP_001271278.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 305,
"cds_start": 391,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284349.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.*499C>G",
"hgvs_p": null,
"transcript": "ENST00000514049.5",
"protein_id": "ENSP00000421223.1",
"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": "ENST00000514049.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.*393C>G",
"hgvs_p": null,
"transcript": "ENST00000559568.5",
"protein_id": "ENSP00000453749.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000559568.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.*225C>G",
"hgvs_p": null,
"transcript": "ENST00000561339.1",
"protein_id": "ENSP00000454387.1",
"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": "ENST00000561339.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.687C>G",
"hgvs_p": null,
"transcript": "NR_147832.2",
"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": "NR_147832.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.*499C>G",
"hgvs_p": null,
"transcript": "ENST00000514049.5",
"protein_id": "ENSP00000421223.1",
"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": "ENST00000514049.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.*393C>G",
"hgvs_p": null,
"transcript": "ENST00000559568.5",
"protein_id": "ENSP00000453749.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000559568.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.*225C>G",
"hgvs_p": null,
"transcript": "ENST00000561339.1",
"protein_id": "ENSP00000454387.1",
"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": "ENST00000561339.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IQCH-AS1",
"gene_hgnc_id": 44104,
"hgvs_c": "n.121+49068G>C",
"hgvs_p": null,
"transcript": "ENST00000669759.1",
"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": "ENST00000669759.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"hgvs_c": "n.*354C>G",
"hgvs_p": null,
"transcript": "ENST00000535744.5",
"protein_id": "ENSP00000441306.1",
"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": "ENST00000535744.5"
}
],
"gene_symbol": "IQCH",
"gene_hgnc_id": 25721,
"dbsnp": "rs761446046",
"frequency_reference_population": 0.0000012391896,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84073e-7,
"gnomad_genomes_af": 0.0000065735,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06332197785377502,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.2528,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.489,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001031715.3",
"gene_symbol": "IQCH",
"hgnc_id": 25721,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.910C>G",
"hgvs_p": "p.His304Asp"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000669759.1",
"gene_symbol": "IQCH-AS1",
"hgnc_id": 44104,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.121+49068G>C",
"hgvs_p": null
}
],
"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
}