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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: 10-99880039-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=99880039&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 99880039,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000324109.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.4320C>T",
"hgvs_p": "p.Ser1440Ser",
"transcript": "NM_015221.4",
"protein_id": "NP_056036.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4320,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 4440,
"cdna_end": null,
"cdna_length": 6428,
"mane_select": "ENST00000324109.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.4320C>T",
"hgvs_p": "p.Ser1440Ser",
"transcript": "ENST00000324109.9",
"protein_id": "ENSP00000315659.4",
"transcript_support_level": 1,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4320,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 4440,
"cdna_end": null,
"cdna_length": 6428,
"mane_select": "NM_015221.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.2184C>T",
"hgvs_p": "p.Ser728Ser",
"transcript": "ENST00000543621.6",
"protein_id": "ENSP00000443657.2",
"transcript_support_level": 1,
"aa_start": 728,
"aa_end": null,
"aa_length": 865,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.4320C>T",
"hgvs_p": "p.Ser1440Ser",
"transcript": "NM_001441287.1",
"protein_id": "NP_001428216.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4320,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 4522,
"cdna_end": null,
"cdna_length": 6510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.4191C>T",
"hgvs_p": "p.Ser1397Ser",
"transcript": "NM_001441288.1",
"protein_id": "NP_001428217.1",
"transcript_support_level": null,
"aa_start": 1397,
"aa_end": null,
"aa_length": 1534,
"cds_start": 4191,
"cds_end": null,
"cds_length": 4605,
"cdna_start": 4311,
"cdna_end": null,
"cdna_length": 6299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.3216C>T",
"hgvs_p": "p.Ser1072Ser",
"transcript": "NM_001318326.2",
"protein_id": "NP_001305255.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3216,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 3360,
"cdna_end": null,
"cdna_length": 5348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.3216C>T",
"hgvs_p": "p.Ser1072Ser",
"transcript": "ENST00000636706.1",
"protein_id": "ENSP00000489875.1",
"transcript_support_level": 2,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3216,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 3449,
"cdna_end": null,
"cdna_length": 5437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.2058C>T",
"hgvs_p": "p.Ser686Ser",
"transcript": "NM_001318327.2",
"protein_id": "NP_001305256.2",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 823,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.2055C>T",
"hgvs_p": "p.Ser685Ser",
"transcript": "NM_001441290.1",
"protein_id": "NP_001428219.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 822,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.1830C>T",
"hgvs_p": "p.Ser610Ser",
"transcript": "NM_001441291.1",
"protein_id": "NP_001428220.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 747,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 4463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.1542C>T",
"hgvs_p": "p.Ser514Ser",
"transcript": "NM_001441292.1",
"protein_id": "NP_001428221.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 651,
"cds_start": 1542,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 4032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ser376Ser",
"transcript": "NM_001441293.1",
"protein_id": "NP_001428222.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 513,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.4320C>T",
"hgvs_p": "p.Ser1440Ser",
"transcript": "XM_047424910.1",
"protein_id": "XP_047280866.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4320,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 7759,
"cdna_end": null,
"cdna_length": 9753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "n.4538C>T",
"hgvs_p": null,
"transcript": "NR_199816.1",
"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": 6526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "n.2242C>T",
"hgvs_p": null,
"transcript": "NR_199817.1",
"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": 4230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"dbsnp": "rs2255901",
"frequency_reference_population": 0.50892645,
"hom_count_reference_population": 211787,
"allele_count_reference_population": 821332,
"gnomad_exomes_af": 0.509351,
"gnomad_genomes_af": 0.504848,
"gnomad_exomes_ac": 744586,
"gnomad_genomes_ac": 76746,
"gnomad_exomes_homalt": 192042,
"gnomad_genomes_homalt": 19745,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.845,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000324109.9",
"gene_symbol": "DNMBP",
"hgnc_id": 30373,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4320C>T",
"hgvs_p": "p.Ser1440Ser"
}
],
"clinvar_disease": "Cataract 48,DNMBP-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Cataract 48|DNMBP-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}