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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: 17-56374604-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=56374604&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 56374604,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001370326.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Ala267Val",
"transcript": "NM_001370326.1",
"protein_id": "NP_001357255.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 1146,
"cds_start": 800,
"cds_end": null,
"cds_length": 3441,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 9314,
"mane_select": "ENST00000682825.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Ala267Val",
"transcript": "ENST00000682825.1",
"protein_id": "ENSP00000507365.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 1146,
"cds_start": 800,
"cds_end": null,
"cds_length": 3441,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 9314,
"mane_select": "NM_001370326.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"transcript": "ENST00000653862.1",
"protein_id": "ENSP00000499705.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 1296,
"cds_start": 1250,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ala359Val",
"transcript": "ENST00000635860.2",
"protein_id": "ENSP00000489811.2",
"transcript_support_level": 5,
"aa_start": 359,
"aa_end": null,
"aa_length": 1238,
"cds_start": 1076,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 4394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Ala270Val",
"transcript": "ENST00000566473.6",
"protein_id": "ENSP00000454224.2",
"transcript_support_level": 5,
"aa_start": 270,
"aa_end": null,
"aa_length": 1149,
"cds_start": 809,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ala199Val",
"transcript": "NM_001365758.1",
"protein_id": "NP_001352687.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1078,
"cds_start": 596,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 9300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Ala270Val",
"transcript": "NM_153228.3",
"protein_id": "NP_694960.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 763,
"cds_start": 809,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 2428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Ala270Val",
"transcript": "ENST00000318698.6",
"protein_id": "ENSP00000321627.2",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 763,
"cds_start": 809,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"transcript": "XM_017024263.2",
"protein_id": "XP_016879752.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 1170,
"cds_start": 872,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 9410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"transcript": "XM_017024265.3",
"protein_id": "XP_016879754.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 1170,
"cds_start": 872,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 9643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "XM_017024266.2",
"protein_id": "XP_016879755.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 1160,
"cds_start": 842,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 9618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Ala270Val",
"transcript": "XM_011524428.2",
"protein_id": "XP_011522730.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1149,
"cds_start": 809,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 9232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Ala264Val",
"transcript": "XM_011524429.3",
"protein_id": "XP_011522731.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1143,
"cds_start": 791,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 9372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"transcript": "XM_017024267.2",
"protein_id": "XP_016879756.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 1140,
"cds_start": 782,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 9251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ala199Val",
"transcript": "XM_006721728.4",
"protein_id": "XP_006721791.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1078,
"cds_start": 596,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 9227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ala199Val",
"transcript": "XM_011524430.3",
"protein_id": "XP_011522732.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1078,
"cds_start": 596,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 9317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ala199Val",
"transcript": "XM_011524431.3",
"protein_id": "XP_011522733.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1078,
"cds_start": 596,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 9249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ala199Val",
"transcript": "XM_017024269.2",
"protein_id": "XP_016879758.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1078,
"cds_start": 596,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 9388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ala199Val",
"transcript": "XM_047435502.1",
"protein_id": "XP_047291458.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1078,
"cds_start": 596,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 9425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKFN1",
"gene_hgnc_id": 26766,
"dbsnp": "rs533848014",
"frequency_reference_population": 0.00000682179,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000616367,
"gnomad_genomes_af": 0.0000131309,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10444977879524231,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.0758,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.814,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001370326.1",
"gene_symbol": "ANKFN1",
"hgnc_id": 26766,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Ala267Val"
}
],
"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
}