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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: 19-44118557-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44118557&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF225",
"hgnc_id": 13018,
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_013362.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.109,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11619171500205994,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4447,
"cdna_start": 457,
"cds_end": null,
"cds_length": 2121,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_013362.4",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262894.11",
"protein_coding": true,
"protein_id": "NP_037494.2",
"strand": true,
"transcript": "NM_013362.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4447,
"cdna_start": 457,
"cds_end": null,
"cds_length": 2121,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000262894.11",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013362.4",
"protein_coding": true,
"protein_id": "ENSP00000262894.5",
"strand": true,
"transcript": "ENST00000262894.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2404,
"cdna_start": 501,
"cds_end": null,
"cds_length": 2121,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000590612.1",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468686.1",
"strand": true,
"transcript": "ENST00000590612.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4612,
"cdna_start": 622,
"cds_end": null,
"cds_length": 2121,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321685.2",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308614.1",
"strand": true,
"transcript": "NM_001321685.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4470,
"cdna_start": 625,
"cds_end": null,
"cds_length": 2121,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860840.1",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530899.1",
"strand": true,
"transcript": "ENST00000860840.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": 494,
"cds_end": null,
"cds_length": 2121,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860841.1",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530900.1",
"strand": true,
"transcript": "ENST00000860841.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3597,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 2121,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860842.1",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530901.1",
"strand": true,
"transcript": "ENST00000860842.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4668,
"cdna_start": 445,
"cds_end": null,
"cds_length": 2121,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000923722.1",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593781.1",
"strand": true,
"transcript": "ENST00000923722.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 318,
"cds_end": null,
"cds_length": 2121,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000923723.1",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593782.1",
"strand": true,
"transcript": "ENST00000923723.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4332,
"cdna_start": 489,
"cds_end": null,
"cds_length": 2121,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000923724.1",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593783.1",
"strand": true,
"transcript": "ENST00000923724.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4206,
"cdna_start": 387,
"cds_end": null,
"cds_length": 2121,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000923725.1",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593784.1",
"strand": true,
"transcript": "ENST00000923725.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 404,
"cds_end": null,
"cds_length": 2121,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000971393.1",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641452.1",
"strand": true,
"transcript": "ENST00000971393.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 121,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 552,
"cdna_start": 403,
"cds_end": null,
"cds_length": 367,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000589155.5",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466853.1",
"strand": true,
"transcript": "ENST00000589155.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 91,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 439,
"cds_end": null,
"cds_length": 276,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000592780.5",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466889.1",
"strand": true,
"transcript": "ENST00000592780.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4480,
"cdna_start": 490,
"cds_end": null,
"cds_length": 2121,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011527285.3",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525587.1",
"strand": true,
"transcript": "XM_011527285.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "Q",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5149,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 2121,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011527286.3",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Gln73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525588.1",
"strand": true,
"transcript": "XM_011527286.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 50,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 541,
"cdna_start": null,
"cds_end": null,
"cds_length": 153,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588926.5",
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"hgvs_c": "c.*65A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468414.1",
"strand": true,
"transcript": "ENST00000588926.5",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs759809853",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 13018,
"gene_symbol": "ZNF225",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.194,
"pos": 44118557,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.06,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_013362.4"
}
]
}