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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: 6-10402608-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=10402608&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 10402608,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000379613.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Ala258Val",
"transcript": "NM_001372066.1",
"protein_id": "NP_001358995.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 439,
"cds_start": 773,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": "ENST00000379613.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Ala258Val",
"transcript": "ENST00000379613.10",
"protein_id": "ENSP00000368933.5",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 439,
"cds_start": 773,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": "NM_001372066.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Ala250Val",
"transcript": "ENST00000379608.9",
"protein_id": "ENSP00000368928.3",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 431,
"cds_start": 749,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Ala256Val",
"transcript": "ENST00000466073.5",
"protein_id": "ENSP00000417495.1",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 328,
"cds_start": 767,
"cds_end": null,
"cds_length": 987,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "n.767C>T",
"hgvs_p": null,
"transcript": "ENST00000478375.5",
"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": 1349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "n.*264C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "n.*264C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Ala258Val",
"transcript": "ENST00000482890.6",
"protein_id": "ENSP00000418541.2",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 439,
"cds_start": 773,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "NM_001042425.3",
"protein_id": "NP_001035890.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 433,
"cds_start": 755,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "ENST00000319516.8",
"protein_id": "ENSP00000316516.4",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 433,
"cds_start": 755,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Ala250Val",
"transcript": "NM_001032280.3",
"protein_id": "NP_001027451.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 431,
"cds_start": 749,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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": "c.479C>T",
"hgvs_p": "p.Ala160Val",
"transcript": "ENST00000475264.5",
"protein_id": "ENSP00000419696.1",
"transcript_support_level": 3,
"aa_start": 160,
"aa_end": null,
"aa_length": 217,
"cds_start": 479,
"cds_end": null,
"cds_length": 654,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "ENST00000498450.3",
"protein_id": "ENSP00000419961.3",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 135,
"cds_start": 338,
"cds_end": null,
"cds_length": 408,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Ala30Val",
"transcript": "ENST00000461628.5",
"protein_id": "ENSP00000417735.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 80,
"cds_start": 89,
"cds_end": null,
"cds_length": 243,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "n.*264C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "n.738C>T",
"hgvs_p": null,
"transcript": "ENST00000497266.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"hgvs_c": "n.*264C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TFAP2A",
"gene_hgnc_id": 11742,
"dbsnp": "rs151344531",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9533525109291077,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.925,
"revel_prediction": "Pathogenic",
"alphamissense_score": 1,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000379613.10",
"gene_symbol": "TFAP2A",
"hgnc_id": 11742,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Ala258Val"
}
],
"clinvar_disease": "Branchiooculofacial syndrome,Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1",
"phenotype_combined": "Branchiooculofacial syndrome|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}