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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: 3-58913851-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=58913851&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 58913851,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001394063.1",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Cys136Phe",
"transcript": "NM_001394063.1",
"protein_id": "NP_001380992.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 814,
"cds_start": 407,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000482387.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394063.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Cys136Phe",
"transcript": "ENST00000482387.7",
"protein_id": "ENSP00000417122.2",
"transcript_support_level": 5,
"aa_start": 136,
"aa_end": null,
"aa_length": 814,
"cds_start": 407,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394063.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482387.7"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Cys11Phe",
"transcript": "ENST00000491845.5",
"protein_id": "ENSP00000418832.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 74,
"cds_start": 32,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491845.5"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "n.407G>T",
"hgvs_p": null,
"transcript": "ENST00000468415.6",
"protein_id": "ENSP00000419142.2",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468415.6"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Cys136Phe",
"transcript": "ENST00000938702.1",
"protein_id": "ENSP00000608761.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 813,
"cds_start": 407,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938702.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Cys136Phe",
"transcript": "NM_001351530.2",
"protein_id": "NP_001338459.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 759,
"cds_start": 407,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351530.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Cys136Phe",
"transcript": "ENST00000938701.1",
"protein_id": "ENSP00000608760.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 687,
"cds_start": 407,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938701.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Cys11Phe",
"transcript": "NM_198463.4",
"protein_id": "NP_940865.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 563,
"cds_start": 32,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198463.4"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Cys11Phe",
"transcript": "ENST00000295966.11",
"protein_id": "ENSP00000295966.7",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 563,
"cds_start": 32,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295966.11"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Cys136Phe",
"transcript": "NM_001351533.2",
"protein_id": "NP_001338462.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 244,
"cds_start": 407,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351533.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Cys136Phe",
"transcript": "NM_001351534.2",
"protein_id": "NP_001338463.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 199,
"cds_start": 407,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351534.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Cys136Phe",
"transcript": "XM_005264929.3",
"protein_id": "XP_005264986.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 801,
"cds_start": 407,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264929.3"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Cys136Phe",
"transcript": "XM_047447655.1",
"protein_id": "XP_047303611.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 746,
"cds_start": 407,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447655.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Cys136Phe",
"transcript": "XM_024453385.2",
"protein_id": "XP_024309153.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 739,
"cds_start": 407,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453385.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Cys136Phe",
"transcript": "XM_011533455.4",
"protein_id": "XP_011531757.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 726,
"cds_start": 407,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533455.4"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Cys11Phe",
"transcript": "XM_011533456.3",
"protein_id": "XP_011531758.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 689,
"cds_start": 32,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533456.3"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Cys11Phe",
"transcript": "XM_011533457.2",
"protein_id": "XP_011531759.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 689,
"cds_start": 32,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533457.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Cys11Phe",
"transcript": "XM_011533458.3",
"protein_id": "XP_011531760.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 689,
"cds_start": 32,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533458.3"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Cys136Phe",
"transcript": "XM_011533459.3",
"protein_id": "XP_011531761.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 688,
"cds_start": 407,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533459.3"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Cys136Phe",
"transcript": "XM_047447656.1",
"protein_id": "XP_047303612.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 633,
"cds_start": 407,
"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": "XM_047447656.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.-545G>T",
"hgvs_p": null,
"transcript": "NM_001351532.2",
"protein_id": "NP_001338461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": null,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351532.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.-66+23797G>T",
"hgvs_p": null,
"transcript": "NM_001351531.2",
"protein_id": "NP_001338460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": null,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
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"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": null,
"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": "XM_011533460.3"
}
],
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"dbsnp": "rs371916517",
"frequency_reference_population": 0.000064460706,
"hom_count_reference_population": 0,
"allele_count_reference_population": 104,
"gnomad_exomes_af": 0.0000643314,
"gnomad_genomes_af": 0.0000657022,
"gnomad_exomes_ac": 94,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8622846603393555,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.627,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7652,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.589,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001394063.1",
"gene_symbol": "CFAP20DC",
"hgnc_id": 24763,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Cys136Phe"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000482372.1",
"gene_symbol": "CFAP20DC-AS1",
"hgnc_id": 41063,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.106-56507C>A",
"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
}