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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: 3-149185338-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=149185338&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "CP",
"hgnc_id": 2295,
"hgvs_c": "c.2185delC",
"hgvs_p": "p.Leu729fs",
"inheritance_mode": "AR,AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_000096.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Deficiency of ferroxidase",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1065,
"aa_ref": "L",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4452,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 3198,
"cds_start": 2185,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_000096.4",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "c.2185delC",
"hgvs_p": "p.Leu729fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264613.11",
"protein_coding": true,
"protein_id": "NP_000087.2",
"strand": false,
"transcript": "NM_000096.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1065,
"aa_ref": "L",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4452,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 3198,
"cds_start": 2185,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000264613.11",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "c.2185delC",
"hgvs_p": "p.Leu729fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000096.4",
"protein_coding": true,
"protein_id": "ENSP00000264613.6",
"strand": false,
"transcript": "ENST00000264613.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 852,
"aa_ref": "L",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 2559,
"cds_start": 1534,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000494544.1",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "c.1534delC",
"hgvs_p": "p.Leu512fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420545.1",
"strand": false,
"transcript": "ENST00000494544.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000490639.5",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "n.2217delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000490639.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1054,
"aa_ref": "L",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4197,
"cdna_start": 2262,
"cds_end": null,
"cds_length": 3165,
"cds_start": 2185,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000870689.1",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "c.2185delC",
"hgvs_p": "p.Leu729fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540748.1",
"strand": false,
"transcript": "ENST00000870689.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1007,
"aa_ref": "L",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4269,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 3024,
"cds_start": 2011,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000870686.1",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "c.2011delC",
"hgvs_p": "p.Leu671fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540745.1",
"strand": false,
"transcript": "ENST00000870686.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 995,
"aa_ref": "L",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3782,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 2988,
"cds_start": 2185,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000870690.1",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "c.2185delC",
"hgvs_p": "p.Leu729fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540749.1",
"strand": false,
"transcript": "ENST00000870690.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 994,
"aa_ref": "L",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4226,
"cdna_start": 2004,
"cds_end": null,
"cds_length": 2985,
"cds_start": 1972,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000870687.1",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "c.1972delC",
"hgvs_p": "p.Leu658fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540746.1",
"strand": false,
"transcript": "ENST00000870687.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1094,
"aa_ref": "L",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3797,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 3285,
"cds_start": 2185,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011512435.3",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "c.2185delC",
"hgvs_p": "p.Leu729fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510737.1",
"strand": false,
"transcript": "XM_011512435.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1090,
"aa_ref": "L",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 3273,
"cds_start": 2185,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006713499.4",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "c.2185delC",
"hgvs_p": "p.Leu729fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713562.1",
"strand": false,
"transcript": "XM_006713499.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1069,
"aa_ref": "L",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4464,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 3210,
"cds_start": 2185,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006713500.5",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "c.2185delC",
"hgvs_p": "p.Leu729fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713563.1",
"strand": false,
"transcript": "XM_006713500.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1069,
"aa_ref": "L",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5420,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 3210,
"cds_start": 2185,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017005734.3",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "c.2185delC",
"hgvs_p": "p.Leu729fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861223.1",
"strand": false,
"transcript": "XM_017005734.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1065,
"aa_ref": "L",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5511,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 3198,
"cds_start": 2185,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006713501.4",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "c.2185delC",
"hgvs_p": "p.Leu729fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713564.1",
"strand": false,
"transcript": "XM_006713501.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1012,
"aa_ref": "L",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4289,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2185,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017005735.3",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "c.2185delC",
"hgvs_p": "p.Leu729fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861224.1",
"strand": false,
"transcript": "XM_017005735.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 906,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3882,
"cdna_start": null,
"cds_end": null,
"cds_length": 2721,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870688.1",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "c.2077+1181delC",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540747.1",
"strand": false,
"transcript": "ENST00000870688.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 607,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000462336.5",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "n.517delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000462336.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000481169.5",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "n.1972delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000418773.1",
"strand": false,
"transcript": "ENST00000481169.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 542,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000497902.5",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "n.366delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000497902.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NR_046371.2",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "n.2009delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_046371.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3622,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XR_427361.4",
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"hgvs_c": "n.2222delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_427361.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs587777922",
"effect": "frameshift_variant",
"frequency_reference_population": 6.840516e-7,
"gene_hgnc_id": 2295,
"gene_symbol": "CP",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84052e-7,
"gnomad_exomes_homalt": 0,
"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": "Pathogenic",
"phenotype_combined": "Deficiency of ferroxidase",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.141,
"pos": 149185338,
"ref": "AG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
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"transcript": "NM_000096.4"
}
]
}