← Back to variant description
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: 18-69895748-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=69895748&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CD226",
"hgnc_id": 16961,
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_006566.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000304227",
"hgnc_id": null,
"hgvs_c": "n.-30C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000801167.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1047,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08390295505523682,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12518,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1011,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001303618.2",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000582621.6",
"protein_coding": true,
"protein_id": "NP_001290547.1",
"strand": false,
"transcript": "NM_001303618.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12518,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1011,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000582621.6",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001303618.2",
"protein_coding": true,
"protein_id": "ENSP00000461947.1",
"strand": false,
"transcript": "ENST00000582621.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12319,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1011,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000280200.8",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000280200.4",
"strand": false,
"transcript": "ENST00000280200.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 181,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2157,
"cdna_start": 468,
"cds_end": null,
"cds_length": 546,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000581982.5",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464084.1",
"strand": false,
"transcript": "ENST00000581982.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12123,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1011,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_006566.4",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006557.2",
"strand": false,
"transcript": "NM_006566.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 913,
"cds_end": null,
"cds_length": 1011,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851210.1",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521269.1",
"strand": false,
"transcript": "ENST00000851210.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 1011,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851211.1",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521270.1",
"strand": false,
"transcript": "ENST00000851211.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1011,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951224.1",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621283.1",
"strand": false,
"transcript": "ENST00000951224.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1168,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 830,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000579496.5",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463927.1",
"strand": false,
"transcript": "ENST00000579496.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 181,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11714,
"cdna_start": 343,
"cds_end": null,
"cds_length": 546,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001303619.2",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290548.1",
"strand": false,
"transcript": "NM_001303619.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 181,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1009,
"cdna_start": 479,
"cds_end": null,
"cds_length": 546,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000577287.5",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462453.1",
"strand": false,
"transcript": "ENST00000577287.5",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12222,
"cdna_start": 851,
"cds_end": null,
"cds_length": 1011,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005266642.4",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005266699.1",
"strand": false,
"transcript": "XM_005266642.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12363,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1011,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047437274.1",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293230.1",
"strand": false,
"transcript": "XM_047437274.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12264,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1011,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047437275.1",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293231.1",
"strand": false,
"transcript": "XM_047437275.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 289,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1667,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 870,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047437276.1",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293232.1",
"strand": false,
"transcript": "XM_047437276.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 213,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11851,
"cdna_start": 480,
"cds_end": null,
"cds_length": 642,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_006722374.4",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722437.1",
"strand": false,
"transcript": "XM_006722374.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 181,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12036,
"cdna_start": 665,
"cds_end": null,
"cds_length": 546,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047437277.1",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293233.1",
"strand": false,
"transcript": "XM_047437277.1",
"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": 474,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000578928.1",
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"hgvs_c": "n.62G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463152.1",
"strand": false,
"transcript": "ENST00000578928.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 793,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000801167.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000304227",
"hgvs_c": "n.-30C>T",
"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": "ENST00000801167.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs980347039",
"effect": "missense_variant",
"frequency_reference_population": 6.84061e-7,
"gene_hgnc_id": 16961,
"gene_symbol": "CD226",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84061e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.396,
"pos": 69895748,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.019,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006566.4"
}
]
}