← Back to variant description
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: 5-14741875-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=14741875&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 14741875,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_054027.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKH",
"gene_hgnc_id": 15492,
"hgvs_c": "c.963A>G",
"hgvs_p": "p.Ala321Ala",
"transcript": "NM_054027.6",
"protein_id": "NP_473368.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 492,
"cds_start": 963,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 8207,
"mane_select": "ENST00000284268.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_054027.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKH",
"gene_hgnc_id": 15492,
"hgvs_c": "c.963A>G",
"hgvs_p": "p.Ala321Ala",
"transcript": "ENST00000284268.8",
"protein_id": "ENSP00000284268.6",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 492,
"cds_start": 963,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 8207,
"mane_select": "NM_054027.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284268.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKH",
"gene_hgnc_id": 15492,
"hgvs_c": "c.963A>G",
"hgvs_p": "p.Ala321Ala",
"transcript": "ENST00000887636.1",
"protein_id": "ENSP00000557695.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 490,
"cds_start": 963,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887636.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKH",
"gene_hgnc_id": 15492,
"hgvs_c": "c.963A>G",
"hgvs_p": "p.Ala321Ala",
"transcript": "ENST00000964374.1",
"protein_id": "ENSP00000634433.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 490,
"cds_start": 963,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964374.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKH",
"gene_hgnc_id": 15492,
"hgvs_c": "c.963A>G",
"hgvs_p": "p.Ala321Ala",
"transcript": "ENST00000887638.1",
"protein_id": "ENSP00000557697.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 489,
"cds_start": 963,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887638.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKH",
"gene_hgnc_id": 15492,
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"transcript": "ENST00000887639.1",
"protein_id": "ENSP00000557698.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 447,
"cds_start": 828,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887639.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKH",
"gene_hgnc_id": 15492,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Ala219Ala",
"transcript": "ENST00000887637.1",
"protein_id": "ENSP00000557696.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 390,
"cds_start": 657,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 2954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887637.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKH",
"gene_hgnc_id": 15492,
"hgvs_c": "c.879A>G",
"hgvs_p": "p.Ala293Ala",
"transcript": "XM_017009644.3",
"protein_id": "XP_016865133.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 464,
"cds_start": 879,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 3071,
"cdna_end": null,
"cdna_length": 9984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009644.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKH",
"gene_hgnc_id": 15492,
"hgvs_c": "c.963A>G",
"hgvs_p": "p.Ala321Ala",
"transcript": "XM_011514067.2",
"protein_id": "XP_011512369.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 350,
"cds_start": 963,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 1488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514067.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ANKH",
"gene_hgnc_id": 15492,
"hgvs_c": "n.475A>G",
"hgvs_p": null,
"transcript": "ENST00000503939.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 610,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000503939.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKH",
"gene_hgnc_id": 15492,
"hgvs_c": "n.197A>G",
"hgvs_p": null,
"transcript": "ENST00000515517.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 615,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000515517.1"
}
],
"gene_symbol": "ANKH",
"gene_hgnc_id": 15492,
"dbsnp": "rs2288474",
"frequency_reference_population": 0.05276414,
"hom_count_reference_population": 3130,
"allele_count_reference_population": 85159,
"gnomad_exomes_af": 0.0516261,
"gnomad_genomes_af": 0.0636896,
"gnomad_exomes_ac": 75462,
"gnomad_genomes_ac": 9697,
"gnomad_exomes_homalt": 2710,
"gnomad_genomes_homalt": 420,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.916,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_054027.6",
"gene_symbol": "ANKH",
"hgnc_id": 15492,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.963A>G",
"hgvs_p": "p.Ala321Ala"
}
],
"clinvar_disease": " autosomal dominant,Chondrocalcinosis 2,Craniometaphyseal dysplasia,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "Craniometaphyseal dysplasia, autosomal dominant|Chondrocalcinosis 2|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}