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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: 15-65329089-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65329089&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 65329089,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004884.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2265G>T",
"hgvs_p": "p.Gln755His",
"transcript": "NM_004884.4",
"protein_id": "NP_004875.2",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 814,
"cds_start": 2265,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327987.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004884.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2265G>T",
"hgvs_p": "p.Gln755His",
"transcript": "ENST00000327987.9",
"protein_id": "ENSP00000332773.4",
"transcript_support_level": 1,
"aa_start": 755,
"aa_end": null,
"aa_length": 814,
"cds_start": 2265,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004884.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327987.9"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2307G>T",
"hgvs_p": "p.Gln769His",
"transcript": "ENST00000920202.1",
"protein_id": "ENSP00000590261.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 828,
"cds_start": 2307,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920202.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2304G>T",
"hgvs_p": "p.Gln768His",
"transcript": "ENST00000920210.1",
"protein_id": "ENSP00000590269.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 827,
"cds_start": 2304,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920210.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2262G>T",
"hgvs_p": "p.Gln754His",
"transcript": "ENST00000863890.1",
"protein_id": "ENSP00000533949.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 813,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863890.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2193G>T",
"hgvs_p": "p.Gln731His",
"transcript": "ENST00000920211.1",
"protein_id": "ENSP00000590270.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 790,
"cds_start": 2193,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920211.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2190G>T",
"hgvs_p": "p.Gln730His",
"transcript": "ENST00000920204.1",
"protein_id": "ENSP00000590263.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 789,
"cds_start": 2190,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920204.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2127G>T",
"hgvs_p": "p.Gln709His",
"transcript": "ENST00000920203.1",
"protein_id": "ENSP00000590262.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 768,
"cds_start": 2127,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920203.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2124G>T",
"hgvs_p": "p.Gln708His",
"transcript": "ENST00000920201.1",
"protein_id": "ENSP00000590260.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 767,
"cds_start": 2124,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920201.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2100G>T",
"hgvs_p": "p.Gln700His",
"transcript": "ENST00000863891.1",
"protein_id": "ENSP00000533950.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 759,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863891.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2097G>T",
"hgvs_p": "p.Gln699His",
"transcript": "ENST00000920200.1",
"protein_id": "ENSP00000590259.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 758,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920200.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2073G>T",
"hgvs_p": "p.Gln691His",
"transcript": "ENST00000920205.1",
"protein_id": "ENSP00000590264.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 750,
"cds_start": 2073,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920205.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1962G>T",
"hgvs_p": "p.Gln654His",
"transcript": "ENST00000920207.1",
"protein_id": "ENSP00000590266.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 713,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920207.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1959G>T",
"hgvs_p": "p.Gln653His",
"transcript": "ENST00000920208.1",
"protein_id": "ENSP00000590267.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 712,
"cds_start": 1959,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920208.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Gln617His",
"transcript": "ENST00000920206.1",
"protein_id": "ENSP00000590265.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 676,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920206.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1554G>T",
"hgvs_p": "p.Gln518His",
"transcript": "ENST00000920209.1",
"protein_id": "ENSP00000590268.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 577,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920209.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.2262G>T",
"hgvs_p": "p.Gln754His",
"transcript": "XM_011522241.3",
"protein_id": "XP_011520543.3",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 813,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522241.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1896G>T",
"hgvs_p": "p.Gln632His",
"transcript": "XM_011522243.1",
"protein_id": "XP_011520545.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 691,
"cds_start": 1896,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522243.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Gln618His",
"transcript": "XM_011522244.2",
"protein_id": "XP_011520546.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 677,
"cds_start": 1854,
"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": "XM_011522244.2"
}
],
"gene_symbol": "IGDCC3",
"gene_hgnc_id": 9700,
"dbsnp": "rs201058521",
"frequency_reference_population": 0.000016134238,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.000016448,
"gnomad_genomes_af": 0.0000131287,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0744696855545044,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.2393,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.125,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_004884.4",
"gene_symbol": "IGDCC3",
"hgnc_id": 9700,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2265G>T",
"hgvs_p": "p.Gln755His"
}
],
"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
}