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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: 4-80069491-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=80069491&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 80069491,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000403729.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.241T>C",
"hgvs_p": "p.Ser81Pro",
"transcript": "NM_058172.6",
"protein_id": "NP_477520.2",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 488,
"cds_start": 241,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 8419,
"mane_select": "ENST00000403729.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.241T>C",
"hgvs_p": "p.Ser81Pro",
"transcript": "ENST00000403729.7",
"protein_id": "ENSP00000385575.2",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 488,
"cds_start": 241,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 8419,
"mane_select": "NM_058172.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.241T>C",
"hgvs_p": "p.Ser81Pro",
"transcript": "ENST00000307333.7",
"protein_id": "ENSP00000306185.6",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 489,
"cds_start": 241,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 1473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000404191.5",
"protein_id": "ENSP00000384028.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 411,
"cds_start": 10,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 1469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.241T>C",
"hgvs_p": "p.Ser81Pro",
"transcript": "ENST00000346652.10",
"protein_id": "ENSP00000314883.6",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 386,
"cds_start": 241,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.241T>C",
"hgvs_p": "p.Ser81Pro",
"transcript": "ENST00000680913.1",
"protein_id": "ENSP00000505640.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 505,
"cds_start": 241,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.241T>C",
"hgvs_p": "p.Ser81Pro",
"transcript": "NM_001145794.2",
"protein_id": "NP_001139266.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 489,
"cds_start": 241,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.241T>C",
"hgvs_p": "p.Ser81Pro",
"transcript": "ENST00000681115.1",
"protein_id": "ENSP00000505618.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 488,
"cds_start": 241,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "NM_001286780.2",
"protein_id": "NP_001273709.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 411,
"cds_start": 10,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 7676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "NM_001286781.2",
"protein_id": "NP_001273710.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 411,
"cds_start": 10,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 8119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000681710.1",
"protein_id": "ENSP00000505865.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 411,
"cds_start": 10,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000506286.1",
"protein_id": "ENSP00000505100.1",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 20,
"cds_start": 10,
"cds_end": null,
"cds_length": 65,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "n.10T>C",
"hgvs_p": null,
"transcript": "ENST00000449651.5",
"protein_id": "ENSP00000413700.1",
"transcript_support_level": 2,
"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": 2026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "n.10T>C",
"hgvs_p": null,
"transcript": "ENST00000679571.1",
"protein_id": "ENSP00000506307.1",
"transcript_support_level": null,
"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": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "n.248+9862T>C",
"hgvs_p": null,
"transcript": "ENST00000514959.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"dbsnp": "rs797045029",
"frequency_reference_population": 6.8913715e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.89137e-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": 0.902411937713623,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.74,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9934,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.178,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000403729.7",
"gene_symbol": "ANTXR2",
"hgnc_id": 21732,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.241T>C",
"hgvs_p": "p.Ser81Pro"
}
],
"clinvar_disease": "Hyaline fibromatosis syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Hyaline fibromatosis syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}