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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: 12-53423957-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53423957&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53423957,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020547.3",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "NM_020547.3",
"protein_id": "NP_065434.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 573,
"cds_start": 23,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": "ENST00000257863.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "ENST00000257863.9",
"protein_id": "ENSP00000257863.3",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 573,
"cds_start": 23,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": "NM_020547.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "ENST00000379791.7",
"protein_id": "ENSP00000369117.3",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 478,
"cds_start": 23,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 23,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "ENST00000550311.5",
"protein_id": "ENSP00000446661.1",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 478,
"cds_start": 23,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "NM_001164690.2",
"protein_id": "NP_001158162.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 478,
"cds_start": 23,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "NM_001164691.2",
"protein_id": "NP_001158163.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 478,
"cds_start": 23,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "XM_011538173.2",
"protein_id": "XP_011536475.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 593,
"cds_start": 23,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "XM_011538174.2",
"protein_id": "XP_011536476.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 592,
"cds_start": 23,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "XM_011538176.2",
"protein_id": "XP_011536478.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 574,
"cds_start": 23,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "XM_011538178.2",
"protein_id": "XP_011536480.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 520,
"cds_start": 23,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "XM_011538179.2",
"protein_id": "XP_011536481.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 498,
"cds_start": 23,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "XM_024448938.2",
"protein_id": "XP_024304706.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 479,
"cds_start": 23,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "XM_017019179.2",
"protein_id": "XP_016874668.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 451,
"cds_start": 23,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "XM_011538183.2",
"protein_id": "XP_011536485.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 450,
"cds_start": 23,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "XM_011538184.2",
"protein_id": "XP_011536486.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 411,
"cds_start": 23,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "XM_011538185.2",
"protein_id": "XP_011536487.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 383,
"cds_start": 23,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser",
"transcript": "XM_047428700.1",
"protein_id": "XP_047284656.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 296,
"cds_start": 23,
"cds_end": null,
"cds_length": 891,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AMHR2",
"gene_hgnc_id": 465,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6908029913902283,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.722,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1503,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.181,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020547.3",
"gene_symbol": "AMHR2",
"hgnc_id": 465,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.23G>C",
"hgvs_p": "p.Trp8Ser"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}