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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: 21-44330262-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44330262&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 44330262,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000339818.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Gln236Arg",
"transcript": "NM_004928.3",
"protein_id": "NP_004919.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 256,
"cds_start": 707,
"cds_end": null,
"cds_length": 771,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": "ENST00000339818.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Gln236Arg",
"transcript": "ENST00000339818.9",
"protein_id": "ENSP00000344566.4",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 256,
"cds_start": 707,
"cds_end": null,
"cds_length": 771,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": "NM_004928.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "ENST00000397956.7",
"protein_id": "ENSP00000381047.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 375,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Gln235Arg",
"transcript": "ENST00000325223.7",
"protein_id": "ENSP00000317302.7",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 255,
"cds_start": 704,
"cds_end": null,
"cds_length": 768,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "n.820A>G",
"hgvs_p": null,
"transcript": "ENST00000496321.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "NM_001271441.2",
"protein_id": "NP_001258370.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 375,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Gln235Arg",
"transcript": "NM_001271440.2",
"protein_id": "NP_001258369.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 255,
"cds_start": 704,
"cds_end": null,
"cds_length": 768,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.581A>G",
"hgvs_p": "p.Gln194Arg",
"transcript": "NM_001271442.1",
"protein_id": "NP_001258371.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 214,
"cds_start": 581,
"cds_end": null,
"cds_length": 645,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.Gln381Arg",
"transcript": "XM_047440980.1",
"protein_id": "XP_047296936.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 401,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Gln380Arg",
"transcript": "XM_047440981.1",
"protein_id": "XP_047296937.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 400,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Gln356Arg",
"transcript": "XM_047440982.1",
"protein_id": "XP_047296938.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 376,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Gln261Arg",
"transcript": "XM_006724051.4",
"protein_id": "XP_006724114.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 281,
"cds_start": 782,
"cds_end": null,
"cds_length": 846,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.779A>G",
"hgvs_p": "p.Gln260Arg",
"transcript": "XM_047440983.1",
"protein_id": "XP_047296939.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 280,
"cds_start": 779,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.743A>G",
"hgvs_p": "p.Gln248Arg",
"transcript": "XM_047440984.1",
"protein_id": "XP_047296940.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 268,
"cds_start": 743,
"cds_end": null,
"cds_length": 807,
"cdna_start": 3506,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.743A>G",
"hgvs_p": "p.Gln248Arg",
"transcript": "XM_047440985.1",
"protein_id": "XP_047296941.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 268,
"cds_start": 743,
"cds_end": null,
"cds_length": 807,
"cdna_start": 3496,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.743A>G",
"hgvs_p": "p.Gln248Arg",
"transcript": "XM_047440986.1",
"protein_id": "XP_047296942.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 268,
"cds_start": 743,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.740A>G",
"hgvs_p": "p.Gln247Arg",
"transcript": "XM_047440987.1",
"protein_id": "XP_047296943.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 267,
"cds_start": 740,
"cds_end": null,
"cds_length": 804,
"cdna_start": 3504,
"cdna_end": null,
"cdna_length": 4822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "n.4161A>G",
"hgvs_p": null,
"transcript": "ENST00000462742.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 4532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "n.283A>G",
"hgvs_p": null,
"transcript": "ENST00000470196.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000241728",
"gene_hgnc_id": null,
"hgvs_c": "n.-216A>G",
"hgvs_p": null,
"transcript": "ENST00000422357.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000241728",
"gene_hgnc_id": null,
"hgvs_c": "n.-41A>G",
"hgvs_p": null,
"transcript": "ENST00000444409.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"dbsnp": "rs11552066",
"frequency_reference_population": 0.1076071,
"hom_count_reference_population": 9802,
"allele_count_reference_population": 172404,
"gnomad_exomes_af": 0.109111,
"gnomad_genomes_af": 0.0932974,
"gnomad_exomes_ac": 158192,
"gnomad_genomes_ac": 14212,
"gnomad_exomes_homalt": 9060,
"gnomad_genomes_homalt": 742,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0013685822486877441,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.0773,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.066,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000339818.9",
"gene_symbol": "CFAP410",
"hgnc_id": 1260,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Gln236Arg"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000422357.5",
"gene_symbol": "ENSG00000241728",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-216A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}