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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: 6-149793609-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=149793609&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 149793609,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000464889.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Val120Ile",
"transcript": "NM_001360452.2",
"protein_id": "NP_001347381.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 227,
"cds_start": 358,
"cds_end": null,
"cds_length": 684,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": "ENST00000464889.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Val120Ile",
"transcript": "ENST00000464889.7",
"protein_id": "ENSP00000420813.2",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 227,
"cds_start": 358,
"cds_end": null,
"cds_length": 684,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": "NM_001360452.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Val120Ile",
"transcript": "ENST00000367384.8",
"protein_id": "ENSP00000356354.3",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 228,
"cds_start": 358,
"cds_end": null,
"cds_length": 687,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Val120Ile",
"transcript": "ENST00000367378.6",
"protein_id": "ENSP00000356348.2",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 227,
"cds_start": 358,
"cds_end": null,
"cds_length": 684,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 1293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.532G>A",
"hgvs_p": "p.Val178Ile",
"transcript": "NM_001252049.1",
"protein_id": "NP_001238978.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 286,
"cds_start": 532,
"cds_end": null,
"cds_length": 861,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.532G>A",
"hgvs_p": "p.Val178Ile",
"transcript": "NM_001252053.1",
"protein_id": "NP_001238982.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 285,
"cds_start": 532,
"cds_end": null,
"cds_length": 858,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.532G>A",
"hgvs_p": "p.Val178Ile",
"transcript": "NM_005389.2",
"protein_id": "NP_005380.2",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 285,
"cds_start": 532,
"cds_end": null,
"cds_length": 858,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Val143Ile",
"transcript": "NM_001252052.1",
"protein_id": "NP_001238981.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 251,
"cds_start": 427,
"cds_end": null,
"cds_length": 756,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Val143Ile",
"transcript": "NM_001252050.1",
"protein_id": "NP_001238979.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 250,
"cds_start": 427,
"cds_end": null,
"cds_length": 753,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 1629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Val143Ile",
"transcript": "NM_001252051.1",
"protein_id": "NP_001238980.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 250,
"cds_start": 427,
"cds_end": null,
"cds_length": 753,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 1629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Val143Ile",
"transcript": "ENST00000367380.9",
"protein_id": "ENSP00000356350.6",
"transcript_support_level": 2,
"aa_start": 143,
"aa_end": null,
"aa_length": 250,
"cds_start": 427,
"cds_end": null,
"cds_length": 753,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 1628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Val143Ile",
"transcript": "ENST00000544496.5",
"protein_id": "ENSP00000438247.2",
"transcript_support_level": 2,
"aa_start": 143,
"aa_end": null,
"aa_length": 250,
"cds_start": 427,
"cds_end": null,
"cds_length": 753,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 1628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Val120Ile",
"transcript": "NM_001360456.1",
"protein_id": "NP_001347385.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 228,
"cds_start": 358,
"cds_end": null,
"cds_length": 687,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Val89Ile",
"transcript": "ENST00000495487.1",
"protein_id": "ENSP00000418881.1",
"transcript_support_level": 3,
"aa_start": 89,
"aa_end": null,
"aa_length": 95,
"cds_start": 265,
"cds_end": null,
"cds_length": 288,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Ile",
"transcript": "XM_011535868.3",
"protein_id": "XP_011534170.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 223,
"cds_start": 343,
"cds_end": null,
"cds_length": 672,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "n.*357G>A",
"hgvs_p": null,
"transcript": "ENST00000484601.6",
"protein_id": "ENSP00000417448.2",
"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": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "n.*538G>A",
"hgvs_p": null,
"transcript": "ENST00000486585.2",
"protein_id": "ENSP00000418461.2",
"transcript_support_level": 3,
"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": 801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "n.*357G>A",
"hgvs_p": null,
"transcript": "ENST00000484601.6",
"protein_id": "ENSP00000417448.2",
"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": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"hgvs_c": "n.*538G>A",
"hgvs_p": null,
"transcript": "ENST00000486585.2",
"protein_id": "ENSP00000418461.2",
"transcript_support_level": 3,
"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": 801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCMT1",
"gene_hgnc_id": 8728,
"dbsnp": "rs4816",
"frequency_reference_population": 0.40795743,
"hom_count_reference_population": 143604,
"allele_count_reference_population": 637972,
"gnomad_exomes_af": 0.394425,
"gnomad_genomes_af": 0.533599,
"gnomad_exomes_ac": 556834,
"gnomad_genomes_ac": 81138,
"gnomad_exomes_homalt": 118770,
"gnomad_genomes_homalt": 24834,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 6.744947427250736e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": 0.0668,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.073,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000464889.7",
"gene_symbol": "PCMT1",
"hgnc_id": 8728,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Val120Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}