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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: 8-105634261-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=105634261&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 105634261,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012082.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Val146Leu",
"transcript": "NM_012082.4",
"protein_id": "NP_036214.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 1151,
"cds_start": 436,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": "ENST00000407775.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Val146Leu",
"transcript": "ENST00000407775.7",
"protein_id": "ENSP00000384179.2",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 1151,
"cds_start": 436,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": "NM_012082.4",
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "n.1176G>C",
"hgvs_p": null,
"transcript": "ENST00000511341.6",
"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": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.277G>C",
"hgvs_p": "p.Val93Leu",
"transcript": "NM_001362836.2",
"protein_id": "NP_001349765.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1098,
"cds_start": 277,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 4802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.40G>C",
"hgvs_p": "p.Val14Leu",
"transcript": "NM_001362837.2",
"protein_id": "NP_001349766.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1019,
"cds_start": 40,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.40G>C",
"hgvs_p": "p.Val14Leu",
"transcript": "ENST00000517361.1",
"protein_id": "ENSP00000428720.1",
"transcript_support_level": 2,
"aa_start": 14,
"aa_end": null,
"aa_length": 1019,
"cds_start": 40,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.40G>C",
"hgvs_p": "p.Val14Leu",
"transcript": "ENST00000520492.5",
"protein_id": "ENSP00000430757.1",
"transcript_support_level": 2,
"aa_start": 14,
"aa_end": null,
"aa_length": 1019,
"cds_start": 40,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.40G>C",
"hgvs_p": "p.Val14Leu",
"transcript": "ENST00000520027.5",
"protein_id": "ENSP00000428149.1",
"transcript_support_level": 4,
"aa_start": 14,
"aa_end": null,
"aa_length": 25,
"cds_start": 40,
"cds_end": null,
"cds_length": 78,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.169G>C",
"hgvs_p": "p.Val57Leu",
"transcript": "XM_047421627.1",
"protein_id": "XP_047277583.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1062,
"cds_start": 169,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.40G>C",
"hgvs_p": "p.Val14Leu",
"transcript": "XM_047421628.1",
"protein_id": "XP_047277584.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1019,
"cds_start": 40,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 8937,
"cdna_end": null,
"cdna_length": 12958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.40G>C",
"hgvs_p": "p.Val14Leu",
"transcript": "XM_047421629.1",
"protein_id": "XP_047277585.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1019,
"cds_start": 40,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 7776,
"cdna_end": null,
"cdna_length": 11797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.40G>C",
"hgvs_p": "p.Val14Leu",
"transcript": "XM_047421630.1",
"protein_id": "XP_047277586.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1019,
"cds_start": 40,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 8958,
"cdna_end": null,
"cdna_length": 12979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.40G>C",
"hgvs_p": "p.Val14Leu",
"transcript": "XM_047421632.1",
"protein_id": "XP_047277588.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1019,
"cds_start": 40,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 5166,
"cdna_end": null,
"cdna_length": 9187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.40G>C",
"hgvs_p": "p.Val14Leu",
"transcript": "XM_047421633.1",
"protein_id": "XP_047277589.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1019,
"cds_start": 40,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 4327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.40G>C",
"hgvs_p": "p.Val14Leu",
"transcript": "XM_047421634.1",
"protein_id": "XP_047277590.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1019,
"cds_start": 40,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 4544,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.336-48428C>G",
"hgvs_p": null,
"transcript": "ENST00000647695.1",
"protein_id": null,
"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": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"dbsnp": "rs200168135",
"frequency_reference_population": 0.00008992527,
"hom_count_reference_population": 0,
"allele_count_reference_population": 145,
"gnomad_exomes_af": 0.0000438317,
"gnomad_genomes_af": 0.000531782,
"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 81,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03296282887458801,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.2619,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.516,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_012082.4",
"gene_symbol": "ZFPM2",
"hgnc_id": 16700,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Val146Leu"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000647695.1",
"gene_symbol": "ZFPM2-AS1",
"hgnc_id": 50698,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.336-48428C>G",
"hgvs_p": null
}
],
"clinvar_disease": "46,Inborn genetic diseases,XY sex reversal 9",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "46,XY sex reversal 9|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}