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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: 10-80157642-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=80157642&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 80157642,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_145868.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu",
"transcript": "NM_145868.2",
"protein_id": "NP_665875.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 505,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 6734,
"mane_select": "ENST00000422982.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu",
"transcript": "ENST00000422982.8",
"protein_id": "ENSP00000404412.2",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 505,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 6734,
"mane_select": "NM_145868.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu",
"transcript": "ENST00000372231.7",
"protein_id": "ENSP00000361305.3",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 505,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 6720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu",
"transcript": "ENST00000438331.5",
"protein_id": "ENSP00000398610.1",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 505,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 6965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu",
"transcript": "XM_005269742.2",
"protein_id": "XP_005269799.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 542,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu",
"transcript": "XM_006717813.3",
"protein_id": "XP_006717876.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 542,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu",
"transcript": "XM_047425140.1",
"protein_id": "XP_047281096.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 542,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu",
"transcript": "XM_047425141.1",
"protein_id": "XP_047281097.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 542,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 2676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu",
"transcript": "NM_001157.3",
"protein_id": "NP_001148.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 505,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu",
"transcript": "NM_001278407.2",
"protein_id": "NP_001265336.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 505,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 6830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu",
"transcript": "NM_001278408.2",
"protein_id": "NP_001265337.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 505,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 2282,
"cdna_end": null,
"cdna_length": 7307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu",
"transcript": "NM_145869.2",
"protein_id": "NP_665876.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 505,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 6930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Ser453Leu",
"transcript": "NM_001278409.2",
"protein_id": "NP_001265338.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 472,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 7003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Ser453Leu",
"transcript": "ENST00000265447.8",
"protein_id": "ENSP00000265447.5",
"transcript_support_level": 5,
"aa_start": 453,
"aa_end": null,
"aa_length": 472,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "ENST00000447489.1",
"protein_id": "ENSP00000405009.1",
"transcript_support_level": 3,
"aa_start": 118,
"aa_end": null,
"aa_length": 147,
"cds_start": 353,
"cds_end": null,
"cds_length": 444,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ser586Leu",
"transcript": "XM_005269741.5",
"protein_id": "XP_005269798.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 605,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 3334,
"cdna_end": null,
"cdna_length": 8359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "n.52+325C>T",
"hgvs_p": null,
"transcript": "ENST00000463340.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"dbsnp": "rs778082972",
"frequency_reference_population": 0.000043398417,
"hom_count_reference_population": 0,
"allele_count_reference_population": 70,
"gnomad_exomes_af": 0.0000280647,
"gnomad_genomes_af": 0.000190722,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 29,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1795339286327362,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8600000143051147,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.104,
"revel_prediction": "Benign",
"alphamissense_score": 0.134,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.103,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.986656154649337,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_145868.2",
"gene_symbol": "ANXA11",
"hgnc_id": 535,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ser486Leu"
}
],
"clinvar_disease": "ANXA11-related disorder,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|Inborn genetic diseases|ANXA11-related disorder|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}