← Back to variant description
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: X-49249509-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49249509&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 49249509,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_014008.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Asp546Asn",
"transcript": "NM_014008.5",
"protein_id": "NP_054727.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 627,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376227.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014008.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Asp546Asn",
"transcript": "ENST00000376227.4",
"protein_id": "ENSP00000365401.3",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 627,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014008.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376227.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Asp552Asn",
"transcript": "ENST00000933907.1",
"protein_id": "ENSP00000603966.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 633,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933907.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Asp551Asn",
"transcript": "ENST00000933906.1",
"protein_id": "ENSP00000603965.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 632,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933906.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Asp554Asn",
"transcript": "ENST00000960401.1",
"protein_id": "ENSP00000630460.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 635,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960401.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1654G>A",
"hgvs_p": "p.Asp552Asn",
"transcript": "ENST00000904959.1",
"protein_id": "ENSP00000575018.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 633,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904959.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Asp551Asn",
"transcript": "ENST00000933908.1",
"protein_id": "ENSP00000603967.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 632,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933908.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Asp545Asn",
"transcript": "ENST00000904953.1",
"protein_id": "ENSP00000575012.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 626,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904953.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Asp545Asn",
"transcript": "ENST00000960400.1",
"protein_id": "ENSP00000630459.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 626,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960400.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Asp545Asn",
"transcript": "ENST00000960404.1",
"protein_id": "ENSP00000630463.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 626,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960404.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1618G>A",
"hgvs_p": "p.Asp540Asn",
"transcript": "ENST00000904954.1",
"protein_id": "ENSP00000575013.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 621,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904954.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1615G>A",
"hgvs_p": "p.Asp539Asn",
"transcript": "ENST00000960402.1",
"protein_id": "ENSP00000630461.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 620,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960402.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1612G>A",
"hgvs_p": "p.Asp538Asn",
"transcript": "ENST00000904955.1",
"protein_id": "ENSP00000575014.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 619,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904955.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1597G>A",
"hgvs_p": "p.Asp533Asn",
"transcript": "ENST00000904958.1",
"protein_id": "ENSP00000575017.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 614,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904958.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Asp525Asn",
"transcript": "ENST00000904956.1",
"protein_id": "ENSP00000575015.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 606,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904956.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1570G>A",
"hgvs_p": "p.Asp524Asn",
"transcript": "ENST00000904957.1",
"protein_id": "ENSP00000575016.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 605,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904957.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Asp506Asn",
"transcript": "ENST00000933905.1",
"protein_id": "ENSP00000603964.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 587,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933905.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Asp470Asn",
"transcript": "ENST00000960403.1",
"protein_id": "ENSP00000630462.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 551,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960403.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Asp545Asn",
"transcript": "XM_005272599.5",
"protein_id": "XP_005272656.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 626,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272599.5"
}
],
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"dbsnp": "rs147222955",
"frequency_reference_population": 0.0051762243,
"hom_count_reference_population": 1922,
"allele_count_reference_population": 6230,
"gnomad_exomes_af": 0.00534456,
"gnomad_genomes_af": 0.00347309,
"gnomad_exomes_ac": 5854,
"gnomad_genomes_ac": 376,
"gnomad_exomes_homalt": 15,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014324039220809937,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.878000020980835,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.478,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5973,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.046,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.999016789131837,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 12,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014008.5",
"gene_symbol": "CCDC22",
"hgnc_id": 28909,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "XL,AR",
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Asp546Asn"
}
],
"clinvar_disease": "Familial thoracic aortic aneurysm and aortic dissection,Intellectual disability,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:4",
"phenotype_combined": "not provided|not specified|Familial thoracic aortic aneurysm and aortic dissection|Intellectual disability",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}