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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: 7-16610663-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=16610663&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 16610663,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020319.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY2",
"gene_hgnc_id": 25370,
"hgvs_c": "c.632A>C",
"hgvs_p": "p.Gln211Pro",
"transcript": "NM_020319.3",
"protein_id": "NP_064715.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 441,
"cds_start": 632,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": "ENST00000306999.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020319.3"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY2",
"gene_hgnc_id": 25370,
"hgvs_c": "c.632A>C",
"hgvs_p": "p.Gln211Pro",
"transcript": "ENST00000306999.7",
"protein_id": "ENSP00000303570.2",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 441,
"cds_start": 632,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": "NM_020319.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306999.7"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY2",
"gene_hgnc_id": 25370,
"hgvs_c": "c.830A>C",
"hgvs_p": "p.Gln277Pro",
"transcript": "ENST00000949063.1",
"protein_id": "ENSP00000619122.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 507,
"cds_start": 830,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949063.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY2",
"gene_hgnc_id": 25370,
"hgvs_c": "c.713A>C",
"hgvs_p": "p.Gln238Pro",
"transcript": "ENST00000949062.1",
"protein_id": "ENSP00000619121.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 468,
"cds_start": 713,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949062.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY2",
"gene_hgnc_id": 25370,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.Gln196Pro",
"transcript": "ENST00000897544.1",
"protein_id": "ENSP00000567603.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 426,
"cds_start": 587,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897544.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY2",
"gene_hgnc_id": 25370,
"hgvs_c": "c.632A>C",
"hgvs_p": "p.Gln211Pro",
"transcript": "ENST00000897542.1",
"protein_id": "ENSP00000567601.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 415,
"cds_start": 632,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897542.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY2",
"gene_hgnc_id": 25370,
"hgvs_c": "c.533A>C",
"hgvs_p": "p.Gln178Pro",
"transcript": "ENST00000897543.1",
"protein_id": "ENSP00000567602.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 408,
"cds_start": 533,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897543.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY2",
"gene_hgnc_id": 25370,
"hgvs_c": "c.467A>C",
"hgvs_p": "p.Gln156Pro",
"transcript": "ENST00000949064.1",
"protein_id": "ENSP00000619123.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 386,
"cds_start": 467,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949064.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY2",
"gene_hgnc_id": 25370,
"hgvs_c": "c.632A>C",
"hgvs_p": "p.Gln211Pro",
"transcript": "ENST00000628652.1",
"protein_id": "ENSP00000485738.1",
"transcript_support_level": 5,
"aa_start": 211,
"aa_end": null,
"aa_length": 341,
"cds_start": 632,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628652.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY2",
"gene_hgnc_id": 25370,
"hgvs_c": "n.632A>C",
"hgvs_p": null,
"transcript": "ENST00000447802.3",
"protein_id": "ENSP00000392259.1",
"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": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000447802.3"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287799",
"gene_hgnc_id": null,
"hgvs_c": "n.224-2476T>G",
"hgvs_p": null,
"transcript": "ENST00000663260.1",
"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": 627,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000663260.1"
},
{
"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": "LOC105375169",
"gene_hgnc_id": null,
"hgvs_c": "n.88-2476T>G",
"hgvs_p": null,
"transcript": "XR_007060225.1",
"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": 503,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060225.1"
},
{
"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": "LOC105375169",
"gene_hgnc_id": null,
"hgvs_c": "n.88-2476T>G",
"hgvs_p": null,
"transcript": "XR_007060226.1",
"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": 505,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060226.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105375169",
"gene_hgnc_id": null,
"hgvs_c": "n.81-5363T>G",
"hgvs_p": null,
"transcript": "XR_007060227.1",
"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": 362,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060227.1"
}
],
"gene_symbol": "ANKMY2",
"gene_hgnc_id": 25370,
"dbsnp": "rs1482756214",
"frequency_reference_population": 0.0000018588166,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136828,
"gnomad_genomes_af": 0.00000656849,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8331524729728699,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.796,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6799,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020319.3",
"gene_symbol": "ANKMY2",
"hgnc_id": 25370,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.632A>C",
"hgvs_p": "p.Gln211Pro"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000663260.1",
"gene_symbol": "ENSG00000287799",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.224-2476T>G",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007060225.1",
"gene_symbol": "LOC105375169",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.88-2476T>G",
"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
}