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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: 6-10404512-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=10404512&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 10404512,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001372066.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.766C>G",
"hgvs_p": "p.Arg256Gly",
"transcript": "NM_001372066.1",
"protein_id": "NP_001358995.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 439,
"cds_start": 766,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": "ENST00000379613.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372066.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.766C>G",
"hgvs_p": "p.Arg256Gly",
"transcript": "ENST00000379613.10",
"protein_id": "ENSP00000368933.5",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 439,
"cds_start": 766,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": "NM_001372066.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379613.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.742C>G",
"hgvs_p": "p.Arg248Gly",
"transcript": "ENST00000379608.9",
"protein_id": "ENSP00000368928.3",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 431,
"cds_start": 742,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379608.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"transcript": "ENST00000466073.5",
"protein_id": "ENSP00000417495.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 328,
"cds_start": 760,
"cds_end": null,
"cds_length": 987,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466073.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "n.760C>G",
"hgvs_p": null,
"transcript": "ENST00000478375.5",
"protein_id": null,
"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": 1349,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478375.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "n.*257C>G",
"hgvs_p": null,
"transcript": "ENST00000488193.7",
"protein_id": "ENSP00000419823.3",
"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": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488193.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "n.*257C>G",
"hgvs_p": null,
"transcript": "ENST00000488193.7",
"protein_id": "ENSP00000419823.3",
"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": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488193.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.766C>G",
"hgvs_p": "p.Arg256Gly",
"transcript": "ENST00000482890.6",
"protein_id": "ENSP00000418541.2",
"transcript_support_level": 5,
"aa_start": 256,
"aa_end": null,
"aa_length": 439,
"cds_start": 766,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482890.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_001042425.3",
"protein_id": "NP_001035890.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 433,
"cds_start": 748,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042425.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000319516.8",
"protein_id": "ENSP00000316516.4",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 433,
"cds_start": 748,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319516.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.742C>G",
"hgvs_p": "p.Arg248Gly",
"transcript": "NM_001032280.3",
"protein_id": "NP_001027451.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 431,
"cds_start": 742,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032280.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.472C>G",
"hgvs_p": "p.Arg158Gly",
"transcript": "ENST00000475264.5",
"protein_id": "ENSP00000419696.1",
"transcript_support_level": 3,
"aa_start": 158,
"aa_end": null,
"aa_length": 217,
"cds_start": 472,
"cds_end": null,
"cds_length": 654,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475264.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"transcript": "ENST00000498450.3",
"protein_id": "ENSP00000419961.3",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 135,
"cds_start": 331,
"cds_end": null,
"cds_length": 408,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498450.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Arg28Gly",
"transcript": "ENST00000461628.5",
"protein_id": "ENSP00000417735.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 80,
"cds_start": 82,
"cds_end": null,
"cds_length": 243,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461628.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "n.*257C>G",
"hgvs_p": null,
"transcript": "ENST00000489805.5",
"protein_id": "ENSP00000420568.1",
"transcript_support_level": 5,
"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": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000489805.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "n.731C>G",
"hgvs_p": null,
"transcript": "ENST00000497266.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000497266.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A-AS2",
"gene_hgnc_id": 52289,
"hgvs_c": "n.57G>C",
"hgvs_p": null,
"transcript": "ENST00000645232.2",
"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": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000645232.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A-AS2",
"gene_hgnc_id": 52289,
"hgvs_c": "n.11G>C",
"hgvs_p": null,
"transcript": "NR_145448.1",
"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": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_145448.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "n.*257C>G",
"hgvs_p": null,
"transcript": "ENST00000489805.5",
"protein_id": "ENSP00000420568.1",
"transcript_support_level": 5,
"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": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000489805.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "n.*156C>G",
"hgvs_p": null,
"transcript": "ENST00000473652.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 658,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000473652.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "n.*109C>G",
"hgvs_p": null,
"transcript": "ENST00000490875.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 893,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490875.5"
}
],
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"dbsnp": "rs151344528",
"frequency_reference_population": 6.9104965e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.9105e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9620672464370728,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.859,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.695,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001372066.1",
"gene_symbol": "TFAP2A",
"hgnc_id": 11742,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.766C>G",
"hgvs_p": "p.Arg256Gly"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_145448.1",
"gene_symbol": "TFAP2A-AS2",
"hgnc_id": 52289,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.11G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Branchiooculofacial syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Branchiooculofacial syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}