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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: 5-75625861-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75625861&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75625861,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000601380.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Ser169Asn",
"transcript": "NM_001276713.2",
"protein_id": "NP_001263642.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 528,
"cds_start": 506,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": "ENST00000601380.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"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": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Ser169Asn",
"transcript": "ENST00000601380.4",
"protein_id": "ENSP00000471417.1",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 528,
"cds_start": 506,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": "NM_001276713.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.374G>A",
"hgvs_p": "p.Ser125Asn",
"transcript": "ENST00000672660.1",
"protein_id": "ENSP00000500535.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 440,
"cds_start": 374,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.407G>A",
"hgvs_p": "p.Ser136Asn",
"transcript": "ENST00000672397.1",
"protein_id": "ENSP00000500692.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 211,
"cds_start": 407,
"cds_end": null,
"cds_length": 638,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Ser204Asn",
"transcript": "XM_017009814.2",
"protein_id": "XP_016865303.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 563,
"cds_start": 611,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Ser204Asn",
"transcript": "XM_017009815.2",
"protein_id": "XP_016865304.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 519,
"cds_start": 611,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Ser204Asn",
"transcript": "XM_017009816.2",
"protein_id": "XP_016865305.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 497,
"cds_start": 611,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Ser169Asn",
"transcript": "XM_011543618.3",
"protein_id": "XP_011541920.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 484,
"cds_start": 506,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.40-9037G>A",
"hgvs_p": null,
"transcript": "ENST00000672844.1",
"protein_id": "ENSP00000500471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": -4,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.39+14613G>A",
"hgvs_p": null,
"transcript": "ENST00000672850.1",
"protein_id": "ENSP00000500538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.193+14034G>A",
"hgvs_p": null,
"transcript": "ENST00000672135.1",
"protein_id": "ENSP00000500556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.193+14034G>A",
"hgvs_p": null,
"transcript": "ENST00000672400.1",
"protein_id": "ENSP00000500812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.22+14034G>A",
"hgvs_p": null,
"transcript": "ENST00000673223.1",
"protein_id": "ENSP00000500095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.37+14034G>A",
"hgvs_p": null,
"transcript": "ENST00000673225.1",
"protein_id": "ENSP00000500047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.194-9065G>A",
"hgvs_p": null,
"transcript": "XM_011543623.3",
"protein_id": "XP_011541925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": -4,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "c.-48-9037G>A",
"hgvs_p": null,
"transcript": "XM_047417686.1",
"protein_id": "XP_047273642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": -4,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"dbsnp": "rs9332464",
"frequency_reference_population": 0.2347885,
"hom_count_reference_population": 45531,
"allele_count_reference_population": 360429,
"gnomad_exomes_af": 0.231655,
"gnomad_genomes_af": 0.263293,
"gnomad_exomes_ac": 320399,
"gnomad_genomes_ac": 40030,
"gnomad_exomes_homalt": 39912,
"gnomad_genomes_homalt": 5619,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0033620893955230713,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.113,
"revel_prediction": "Benign",
"alphamissense_score": 0.0528,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.596,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000601380.4",
"gene_symbol": "ANKDD1B",
"hgnc_id": 32525,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Ser169Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}